MLH1 c.130T>G ;(p.S44A)

Variant ID: 3-37038123-T-G

NM_000249.3(MLH1):c.130T>G;(p.S44A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Construction and validation of an immunoediting-based optimized neoantigen load (ioTNL) model to predict the response and prognosis of immune checkpoint therapy in various cancers.

Aging
Su, Xiaofan X; Jin, Haoxuan H; Wang, Jiaqian J; Lu, Huiping H; Gu, Tiantian T; Gao, Zhibo Z; Li, Manxiang M
Publication Date: 2022-05-25

Variant appearance in text: MLH1: 130T>G; S44A
PubMed Link: 35613927
Variant Present in the following documents:
  • aging-14-204101-s004.xlsx, sheet 1
View BVdb publication page



Computational and cellular studies reveal structural destabilization and degradation of MLH1 variants in Lynch syndrome.

Elife
Abildgaard, Amanda B AB; Stein, Amelie A; Nielsen, Sofie V SV; Schultz-Knudsen, Katrine K; Papaleo, Elena E; Shrikhande, Amruta A; Hoffmann, Eva R ER; Bernstein, Inge I; Gerdes, Anne-Marie AM; Takahashi, Masanobu M; Ishioka, Chikashi C; Lindorff-Larsen, Kresten K; Hartmann-Petersen, Rasmus R
Publication Date: 2019-11-07

Variant appearance in text: MLH1: S44A
PubMed Link: 31697235
Variant Present in the following documents:
  • Main text
  • elife-49138.pdf
View BVdb publication page