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HR c.1069G>A ;(p.E357K)
Variant ID: 8-21984886-C-T
NM_005144.4(
HR
):c.1069G>A;(p.E357K)
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:
COVID-19 in a Cystic Fibrosis Patient.
Oman Medical Journal
Al Lawati, Adil A; Al Balushi, Amal A; Al Salimi, Sumya S
Publication Date: 2023-03
Variant appearance in text: HR: 1069G>A
PubMed Link:
37132009
Variant Present in the following documents:
OMJ-38-02-2100076.pdf
View BVdb publication page
NMR characterization of the interaction of the endonuclease domain of MutL with divalent metal ions and ATP.
Plos One
Mizushima, Ryota R; Kim, Ju Yaen JY; Suetake, Isao I; Tanaka, Hiroaki H; Takai, Tomoyo T; Kamiya, Narutoshi N; Takano, Yu Y; Mishima, Yuichi Y; Tajima, Shoji S; Goto, Yuji Y; Fukui, Kenji K; Lee, Young-Ho YH
Publication Date: 2014
Variant appearance in text: HR: E357K
PubMed Link:
24901533
Variant Present in the following documents:
Main text
pone.0098554.pdf
View BVdb publication page