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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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