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PAK5 c.929G>A ;(p.G310E)
Variant ID: 20-9560853-C-T
NM_177990.2(
PAK5
):c.929G>A;(p.G310E)
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 full-proteome, interaction-specific characterization of mutational hotspots across human cancers.
Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01
Variant appearance in text: PAK7: G310E
PubMed Link:
34963661
Variant Present in the following documents:
supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page
Analysis of variants in Chinese individuals with primary open-angle glaucoma using molecular inversion probe (MIP)-based panel sequencing.
Molecular Vision
Liu, Ting T; Tang, Chao C; Shi, Xiaolong X
Publication Date: 2020
Variant appearance in text: PAK7: Gly310Glu
PubMed Link:
32476818
Variant Present in the following documents:
Main text
mv-v26-378.pdf
View BVdb publication page