6
(show all 50)
UniProtKB/Swiss-Prot genetic disease variations for Porokeratosis 3, Multiple Types:
74
Cosmic variations for Porokeratosis 3, Multiple Types:
9
(show top 50)
(show all 361)
# |
Cosmic Mut ID |
Gene Symbol |
COSMIC Disease Classification (Primary site, Site subtype, Primary histology, Histology subtype) |
Mutation CDS |
Mutation AA |
GRCh38 Location |
Conf |
1 |
COSM10705
|
TP53
|
skin,face,carcinoma,squamous cell carcinoma
|
c.586C>T |
p.R196* |
17:7674945-7674945 |
4 |
2 |
COSM43544
|
TP53
|
skin,face,carcinoma,squamous cell carcinoma
|
c.260C>A |
p.P87Q |
17:7676109-7676109 |
4 |
3 |
COSM44326
|
TP53
|
skin,face,carcinoma,squamous cell carcinoma
|
c.706T>C |
p.Y236H |
17:7674257-7674257 |
4 |
4 |
COSM10656
|
TP53
|
skin,face,carcinoma,squamous cell carcinoma
|
c.742C>T |
p.R248W |
17:7674221-7674221 |
4 |
5 |
COSM45830
|
TP53
|
skin,face,carcinoma,squamous cell carcinoma
|
c.766A>C |
p.T256P |
17:7674197-7674197 |
4 |
6 |
COSM45304
|
TP53
|
skin,face,carcinoma,squamous cell carcinoma
|
c.375+1G>A |
p.? |
17:7675993-7675993 |
4 |
7 |
COSM43588
|
TP53
|
skin,face,carcinoma,squamous cell carcinoma
|
c.740A>C |
p.N247T |
17:7674223-7674223 |
4 |
8 |
COSM11081
|
TP53
|
skin,face,carcinoma,squamous cell carcinoma
|
c.733G>T |
p.G245C |
17:7674230-7674230 |
4 |
9 |
COSM10733
|
TP53
|
skin,face,carcinoma,squamous cell carcinoma
|
c.574C>T |
p.Q192* |
17:7674957-7674957 |
4 |
10 |
COSM43651
|
TP53
|
skin,face,carcinoma,squamous cell carcinoma
|
c.763A>T |
p.I255F |
17:7674200-7674200 |
4 |
11 |
COSM43665
|
TP53
|
skin,face,carcinoma,squamous cell carcinoma
|
c.746G>C |
p.R249T |
17:7674217-7674217 |
4 |
12 |
COSM10988
|
TP53
|
skin,face,carcinoma,squamous cell carcinoma
|
c.772G>A |
p.E258K |
17:7674191-7674191 |
4 |
13 |
COSM45677
|
TP53
|
skin,face,carcinoma,squamous cell carcinoma
|
c.714T>A |
p.C238* |
17:7674249-7674249 |
4 |
14 |
COSM607136
|
TGFBR1
|
skin,neck,carcinoma,squamous cell carcinoma
|
c.1247C>T |
p.S416F |
9:99146601-99146601 |
4 |
15 |
COSM6962965
|
SMO
|
skin,neck,carcinoma,squamous cell carcinoma
|
c.1103C>T |
p.P368L |
7:129206332-129206332 |
4 |
16 |
COSM6962990
|
RARA
|
skin,neck,carcinoma,squamous cell carcinoma
|
c.1384C>T |
p.P462S |
17:40356221-40356221 |
4 |
17 |
COSM6962984
|
RAD52
|
skin,neck,carcinoma,squamous cell carcinoma
|
c.439G>A |
p.V147M |
12:927173-927173 |
4 |
18 |
COSM6962994
|
PTPRT
|
skin,neck,carcinoma,squamous cell carcinoma
|
c.1607C>T |
p.S536L |
20:42352239-42352239 |
4 |
19 |
COSM6962992
|
PTPRT
|
skin,neck,carcinoma,squamous cell carcinoma
|
c.1619G>A |
p.G540E |
20:42352227-42352227 |
4 |
20 |
COSM6962970
|
PTPRD
|
skin,neck,carcinoma,squamous cell carcinoma
|
c.1736G>A |
p.S579N |
9:8504347-8504347 |
4 |
21 |
COSM456125
|
PTPRD
|
skin,neck,carcinoma,squamous cell carcinoma
|
c.5048C>T |
p.S1683F |
9:8341168-8341168 |
4 |
22 |
COSM1700914
|
PTPRD
|
skin,neck,carcinoma,squamous cell carcinoma
|
c.1261C>T |
p.P421S |
9:8518130-8518130 |
4 |
23 |
COSM17489
|
PTCH1
|
skin,face,carcinoma,squamous cell carcinoma
|
c.3724G>A |
p.E1242K |
9:95449149-95449149 |
4 |
24 |
COSM6962989
|
PLCG2
|
skin,neck,carcinoma,squamous cell carcinoma
|
c.115G>T |
p.E39* |
16:81786104-81786104 |
4 |
25 |
COSM6962963
|
PIK3CG
|
skin,neck,carcinoma,squamous cell carcinoma
|
c.310G>A |
p.G104R |
7:106867871-106867871 |
4 |
26 |
COSM6962964
|
PIK3CG
|
skin,neck,carcinoma,squamous cell carcinoma
|
c.3227G>A |
p.R1076K |
7:106905305-106905305 |
4 |
27 |
COSM585
|
NRAS
|
skin,face,carcinoma,squamous cell carcinoma
|
c.183A>T |
p.Q61H |
1:114713907-114713907 |
4 |
28 |
COSM564
|
NRAS
|
skin,neck,carcinoma,squamous cell carcinoma
|
c.35G>A |
p.G12D |
1:114716126-114716126 |
4 |
29 |
COSM6903909
|
NRAS
|
skin,face,carcinoma,squamous cell carcinoma
|
c.443C>T |
p.T148I |
1:114709576-114709576 |
4 |
30 |
COSM574
|
NRAS
|
skin,face,carcinoma,squamous cell carcinoma
|
c.38G>T |
p.G13V |
1:114716123-114716123 |
4 |
31 |
COSM1667036
|
NOTCH2
|
skin,face,carcinoma,squamous cell carcinoma
|
c.337C>T |
p.R113* |
1:120005407-120005407 |
4 |
32 |
COSM6903985
|
NOTCH2
|
skin,face,carcinoma,squamous cell carcinoma
|
c.5524T>C |
p.S1842P |
1:119919569-119919569 |
4 |
33 |
COSM6903873
|
NOTCH2
|
skin,face,carcinoma,squamous cell carcinoma
|
c.5141G>A |
p.G1714D |
1:119922308-119922308 |
4 |
34 |
COSM6903860
|
NOTCH2
|
skin,face,carcinoma,squamous cell carcinoma
|
c.4418G>T |
p.W1473L |
1:119925398-119925398 |
4 |
35 |
COSM6903872
|
NOTCH2
|
skin,face,carcinoma,squamous cell carcinoma
|
c.5140G>A |
p.G1714S |
1:119922309-119922309 |
4 |
36 |
COSM6903875
|
NOTCH2
|
skin,face,carcinoma,squamous cell carcinoma
|
c.5266G>A |
p.E1756K |
1:119921757-119921757 |
4 |
37 |
COSM6903891
|
NOTCH2
|
skin,face,carcinoma,squamous cell carcinoma
|
c.5942T>C |
p.L1981P |
1:119917750-119917750 |
4 |
38 |
COSM6903836
|
NOTCH2
|
skin,face,carcinoma,squamous cell carcinoma
|
c.2314T>C |
p.C772R |
1:119953594-119953594 |
4 |
39 |
COSM6903876
|
NOTCH2
|
skin,face,carcinoma,squamous cell carcinoma
|
c.5449G>A |
p.D1817N |
1:119920259-119920259 |
4 |
40 |
COSM6903835
|
NOTCH2
|
skin,face,carcinoma,squamous cell carcinoma
|
c.2234G>A |
p.C745Y |
1:119953674-119953674 |
4 |
41 |
COSM6903838
|
NOTCH2
|
skin,face,carcinoma,squamous cell carcinoma
|
c.2414T>C |
p.L805P |
1:119950789-119950789 |
4 |
42 |
COSM6903841
|
NOTCH2
|
skin,face,carcinoma,squamous cell carcinoma
|
c.2602C>G |
p.Q868E |
1:119948564-119948564 |
4 |
43 |
COSM6903870
|
NOTCH2
|
skin,face,carcinoma,squamous cell carcinoma
|
c.5006A>G |
p.E1669G |
1:119922443-119922443 |
4 |
44 |
COSM6903823
|
NOTCH2
|
skin,face,carcinoma,squamous cell carcinoma
|
c.1060A>G |
p.I354V |
1:119969559-119969559 |
4 |
45 |
COSM6903877
|
NOTCH2
|
skin,face,carcinoma,squamous cell carcinoma
|
c.5468T>C |
p.V1823A |
1:119920240-119920240 |
4 |
46 |
COSM6903986
|
NOTCH2
|
skin,face,carcinoma,squamous cell carcinoma
|
c.5524T>A |
p.S1842T |
1:119919569-119919569 |
4 |
47 |
COSM6903905
|
NOTCH2
|
skin,face,carcinoma,squamous cell carcinoma
|
c.7097C>T |
p.A2366V |
1:119915625-119915625 |
4 |
48 |
COSM6903887
|
NOTCH2
|
skin,face,carcinoma,squamous cell carcinoma
|
c.5836A>G |
p.T1946A |
1:119918499-119918499 |
4 |
49 |
COSM6903904
|
NOTCH2
|
skin,face,carcinoma,squamous cell carcinoma
|
c.7085A>G |
p.D2362G |
1:119915637-119915637 |
4 |
50 |
COSM6903844
|
NOTCH2
|
skin,face,carcinoma,squamous cell carcinoma
|
c.2987G>A |
p.C996Y |
1:119940751-119940751 |
4 |
|