MLH1 c.1489_1490insCG ;(p.R497Pfs*12)

Variant ID: 3-37070354-C-CCG

NM_000249.3(MLH1):c.1489_1490insCG;(p.R497Pfs*12)

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: 1489_1490insCG; Arg497fs
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: 1489_1490insCG; Arg497Profs
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Comparison of long-term outcomes between Lynch sydrome and sporadic colorectal cancer: a propensity score matching analysis.

Bmc Cancer
Xu, Yun Y; Li, Cong C; Zheng, Charlie Zhi-Lin CZ; Zhang, Yu-Qin YQ; Guo, Tian-An TA; Liu, Fang-Qi FQ; Xu, Ye Y
Publication Date: 2021-01-09

Variant appearance in text: MLH1: 1489_1490insCG; Arg497fs
PubMed Link: 33422027
Variant Present in the following documents:
  • Main text
  • 12885_2020_Article_7771.pdf
View BVdb publication page