MLH1 c.730G>A ;(p.G244S)

Variant ID: 3-37055975-G-A

NM_000249.3(MLH1):c.730G>A;(p.G244S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: HNPCC2: G244S
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
View BVdb publication page



Clinical significance of genetic alterations in endoscopically obtained pancreatic cancer specimens.

Cancer Medicine
Takano, Shinichi S; Fukasawa, Mitsuharu M; Shindo, Hiroko H; Takahashi, Ei E; Hirose, Sumio S; Fukasawa, Yoshimitsu Y; Kawakami, Satoshi S; Hayakawa, Hiroshi H; Kuratomi, Natsuhiko N; Kadokura, Makoto M; Maekawa, Shinya S; Sato, Tadashi T; Enomoto, Nobuyuki N
Publication Date: 2021-02

Variant appearance in text: MLH1: G244S
PubMed Link: 33455072
Variant Present in the following documents:
  • Main text
  • CAM4-10-1264.pdf
View BVdb publication page



Multi-platform molecular profiling of a large cohort of glioblastomas reveals potential therapeutic strategies.

Oncotarget
Xiu, Joanne J; Piccioni, David D; Juarez, Tiffany T; Pingle, Sandeep C SC; Hu, Jethro J; Rudnick, Jeremy J; Fink, Karen K; Spetzler, David B DB; Maney, Todd T; Ghazalpour, Anatole A; Bender, Ryan R; Gatalica, Zoran Z; Reddy, Sandeep S; Sanai, Nader N; Idbaih, Ahmed A; Glantz, Michael M; Kesari, Santosh S
Publication Date: 2016-04-19

Variant appearance in text: MLH1: G244S
PubMed Link: 26933808
Variant Present in the following documents:
  • oncotarget-07-21556-s001.pdf
View BVdb publication page