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MLH1 c.694G>A ;(p.G232R)
Variant ID: 3-37055939-G-A
NM_000249.3(
MLH1
):c.694G>A;(p.G232R)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study.
Plos One
Aoyagi, Yasuko Y; Kano, Yoshihito Y; Tohyama, Kohki K; Matsudera, Shotaro S; Kumaki, Yuichi Y; Takahashi, Kenta K; Mitsumura, Takahiro T; Harada, Yohei Y; Sato, Akemi A; Nakamura, Hideaki H; Sueoka, Eisaburo E; Aragane, Naoko N; Kimura, Koichiro K; Onishi, Iichiro I; Takemoto, Akira A; Akahoshi, Keiichi K; Ono, Hiroaki H; Ishikawa, Toshiaki T; Tokunaga, Masanori M; Nakagawa, Tsuyoshi T; Oshima, Noriko N; Nakamura, Reiko R; Takagi, Masatoshi M; Asakage, Takahiro T; Uetake, Hiroyuki H; Tanabe, Minoru M; Miyake, Satoshi S; Kinugasa, Yusuke Y; Ikeda, Sadakatsu S
Publication Date: 2022
Variant appearance in text: MLH1: G232R
PubMed Link:
35358259
Variant Present in the following documents:
pone.0266112.s001.xlsx, sheet 1
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: 694G>A; G232R
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page
Mismatch repair-deficient prostate cancer with parenchymal brain metastases treated with immune checkpoint blockade.
Cold Spring Harbor Molecular Case Studies
Sena, Laura A LA; Salles, Daniela C DC; Engle, Elizabeth L EL; Zhu, Qingfeng Q; Tukachinsky, Hanna H; Lotan, Tamara L TL; Antonarakis, Emmanuel S ES
Publication Date: 2021-08
Variant appearance in text: MLH1: 694G>A
PubMed Link:
34140335
Variant Present in the following documents:
Main text
View BVdb publication page
A Fifteen-Gene Classifier to Predict Neoadjuvant Chemotherapy Responses in Patients with Stage IB to IIB Squamous Cervical Cancer.
Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
Tian, Xun X; Wang, Xin X; Cui, Zifeng Z; Liu, Jia J; Huang, Xiaoyuan X; Shi, Caixia C; Zhang, Min M; Liu, Ting T; Du, Xiaofang X; Li, Rui R; Huang, Lei L; Gong, Danni D; Tian, Rui R; Cao, Chen C; Jin, Ping P; Zeng, Zhen Z; Pan, Guangxin G; Xia, Meng M; Zhang, Hongfeng H; Luo, Bo B; Xie, Yonghui Y; Li, Xiaoming X; Li, Tianye T; Wu, Jun J; Zhang, Qinghua Q; Chen, Gang G; Hu, Zheng Z
Publication Date: 2021-05
Variant appearance in text: MLH1: G232R
PubMed Link:
34026427
Variant Present in the following documents:
ADVS-8-2001978-s004.xlsx, sheet 4
View BVdb publication page