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STK11 c.723T>C ;(p.A241=)
Variant ID: 19-1220705-T-C
NM_000455.4(
STK11
):c.723T>C;(p.A241=)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Prognostic value of baseline genetic features and newly identified TP53 mutations in advanced breast cancer.
Molecular Oncology
Zhang, Lanxin L; Sun, Siwen S; Zhao, Xiaotian X; Liu, Jingwen J; Xu, Yang Y; Xu, Lingzhi L; Song, Chen C; Li, Na N; Yu, Jing J; Zhao, Shanshan S; Yu, Peiyao P; Fang, Fengqi F; Xie, Jiping J; Ji, Xuening X; Yu, Ruoying R; Ou, Qiuxiang Q; Zhao, Zuowei Z; Li, Man M
Publication Date: 2022-10
Variant appearance in text: STK11: 723T>C; A241=
PubMed Link:
35971249
Variant Present in the following documents:
MOL2-16-3689-s005.xlsx, sheet 1
View BVdb publication page
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: 723T>C; A241A; rs533550278
PubMed Link:
35218119
Variant Present in the following documents:
CAS-113-1451-s002.xlsx, sheet 1
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: 723T>C
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: 723T>C; Ala241Ala; rs533550278
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
Sources of discordance among germ-line variant classifications in ClinVar.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10
Variant appearance in text: STK11: 723T>C; Ala241=
PubMed Link:
28569743
Variant Present in the following documents:
gim201760x7.xlsx, sheet 2
View BVdb publication page