Bibliome.ai browser hg19
Search
About
Stats
FAQ
STK11 c.125G>T ;(p.R42L)
Variant ID: 19-1207037-G-T
NM_000455.4(
STK11
):c.125G>T;(p.R42L)
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:
Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study.
Cancer Science
Kasugai, Yumiko Y; Kohmoto, Tomohiro T; Taniyama, Yukari Y; Koyanagi, Yuriko N YN; Usui, Yoshiaki Y; Iwase, Madoka M; Oze, Isao I; Yamaguchi, Rui R; Ito, Hidemi H; Imoto, Issei I; Matsuo, Keitaro K
Publication Date: 2022-04
Variant appearance in text: STK11: 125G>T; R42L; rs148830698
PubMed Link:
35218119
Variant Present in the following documents:
CAS-113-1451-s002.xlsx, sheet 1
View BVdb publication page
Identification of the Germline Mutation Profile in Esophageal Squamous Cell Carcinoma by Whole Exome Sequencing.
Frontiers In Genetics
Deng, Jiaying J; Weng, Xiaoling X; Ye, Junyi J; Zhou, Daizhan D; Liu, Yun Y; Zhao, Kuaile K
Publication Date: 2019
Variant appearance in text: STK11: Arg42Leu
PubMed Link:
30833958
Variant Present in the following documents:
Main text
fgene-10-00047.pdf
View BVdb publication page
Toward automation of germline variant curation in clinical cancer genetics.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J
Publication Date: 2019-09
Variant appearance in text: STK11: 125G>T; Arg42Leu
PubMed Link:
30787465
Variant Present in the following documents:
NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
View BVdb publication page
Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.
Nature Communications
Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M
Publication Date: 2018-10-04
Variant appearance in text: STK11: 125G>T; Arg42Leu; rs148830698
PubMed Link:
30287823
Variant Present in the following documents:
41467_2018_6581_MOESM4_ESM.xlsx, sheet 1
41467_2018_6581_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page