MUTYH c.1133C>T ;(p.S378F)

Variant ID: 1-45797198-G-A

NM_001048174.1(MUTYH):c.1133C>T;(p.S378F)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes.

Genome Medicine
Wang, Meng M; Banik, Ishani I; Shain, A Hunter AH; Yeh, Iwei I; Bastian, Boris C BC
Publication Date: 2022-06-16

Variant appearance in text: MUTYH: S378F
PubMed Link: 35706047
Variant Present in the following documents:
  • 13073_2022_1068_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Systematic review and meta-analysis of genomic alterations in acral melanoma.

Pigment Cell & Melanoma Research
Broit, Natasa N; Johansson, Peter A PA; Rodgers, Chloe B CB; Walpole, Sebastian T ST; Hayward, Nicholas K NK; Pritchard, Antonia L AL
Publication Date: 2022-05

Variant appearance in text: rs559963863
PubMed Link: 35229492
Variant Present in the following documents:
  • PCMR-35-369-s003.xlsx, sheet 6
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: rs559963863
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



PWAS: proteome-wide association study-linking genes and phenotypes by functional variation in proteins.

Genome Biology
Brandes, Nadav N; Linial, Nathan N; Linial, Michal M
Publication Date: 2020-07-14

Variant appearance in text: rs559963863
PubMed Link: 32665031
Variant Present in the following documents:
  • 13059_2020_2089_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications
Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C
Publication Date: 2020-05-05

Variant appearance in text: MUTYH: 1133C>T
PubMed Link: 32371905
Variant Present in the following documents:
  • 41467_2020_16067_MOESM10_ESM.xlsx, sheet 1
  • 41467_2020_16067_MOESM12_ESM.xlsx, sheet 7
View BVdb publication page