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HR c.1244G>A ;(p.G415D)
Variant ID: 8-21984711-C-T
NM_005144.4(
HR
):c.1244G>A;(p.G415D)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.
Cell Reports. Medicine
Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY
Publication Date: 2022-05-17
Variant appearance in text: HR: 1244G>A; Gly415Asp
PubMed Link:
35584624
Variant Present in the following documents:
mmc2.xlsx, sheet 4
View BVdb publication page
Novel compound heterozygous mutations of ALDH1A3 contribute to anophthalmia in a non-consanguineous Chinese family.
Genetics And Molecular Biology
Liu, Yunqiang Y; Lu, Yongjie Y; Liu, Shasha S; Liao, Shunyao S
Publication Date: 2017
Variant appearance in text: HR: 1244G>A
PubMed Link:
28590501
Variant Present in the following documents:
1415-4757-gmb-1678-4685-GMB-2016-0120-Suppl03.pdf
View BVdb publication page
Functional and structural comparison of pyrrolnitrin- and iprodione-induced modifications in the class III histidine-kinase Bos1 of Botrytis cinerea.
Plos One
Fillinger, Sabine S; Ajouz, Sakhr S; Nicot, Philippe C PC; Leroux, Pierre P; Bardin, Marc M
Publication Date: 2012
Variant appearance in text: HR: G415D
PubMed Link:
22912706
Variant Present in the following documents:
Main text
pone.0042520.pdf
View BVdb publication page