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SI c.3061G>A ;(p.E1021K)
Variant ID: 3-164741396-C-T
NM_001041.3(
SI
):c.3061G>A;(p.E1021K)
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:
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: SI: 3061G>A; Glu1021Lys
PubMed Link:
35584624
Variant Present in the following documents:
mmc2.xlsx, sheet 4
View BVdb publication page
Conformational disruption of PI3Kδ regulation by immunodeficiency mutations in PIK3CD and PIK3R1.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Dornan, Gillian L GL; Siempelkamp, Braden D BD; Jenkins, Meredith L ML; Vadas, Oscar O; Lucas, Carrie L CL; Burke, John E JE
Publication Date: 2017-02-21
Variant appearance in text: SI: E1021K
PubMed Link:
28167755
Variant Present in the following documents:
Main text
View BVdb publication page