MLH1 c.2098C>T ;(p.Q700*)

Variant ID: 3-37090503-C-T

NM_000249.3(MLH1):c.2098C>T;(p.Q700*)

This variant was identified in 4 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: 2098C>T; Gln700Ter
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: 2098C>T; Gln700Ter
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
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: MLH1: 2098C>T; Q700*
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



MSH6 and MUTYH deficiency is a frequent event in early-onset colorectal cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Giráldez, María Dolores MD; Balaguer, Francesc F; Bujanda, Luis L; Cuatrecasas, Miriam M; Muñoz, Jenifer J; Alonso-Espinaco, Virginia V; Larzabal, Mikel M; Petit, Anna A; Gonzalo, Victoria V; Ocaña, Teresa T; Moreira, Leticia L; Enríquez-Navascués, José María JM; Boland, C Richard CR; Goel, Ajay A; Castells, Antoni A; Castellví-Bel, Sergi S
Publication Date: 2010-11-15

Variant appearance in text: MLH1: Q700X
PubMed Link: 20924129
Variant Present in the following documents:
  • Main text
View BVdb publication page