MLH1 c.1997G>A ;(p.W666*)

Variant ID: 3-37090402-G-A

NM_000249.3(MLH1):c.1997G>A;(p.W666*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: MLH1: 1997G>A; Trp666Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: MLH1: 1997G>A; Trp666Ter
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Establishment and characterization of 18 human colorectal cancer cell lines.

Scientific Reports
Kim, Soon-Chan SC; Kim, Hyun-Soo HS; Kim, Jae Hyeon JH; Jeong, Nahyun N; Shin, Young-Kyoung YK; Kim, Min Jung MJ; Park, Ji Won JW; Jeong, Seung-Yong SY; Ku, Ja-Lok JL
Publication Date: 2020-04-22

Variant appearance in text: MLH1: 1997G>A; Trp666*
PubMed Link: 32321971
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_63812.pdf
  • 41598_2020_63812_MOESM1_ESM.pdf
View BVdb publication page