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PAK5 c.1958G>A ;(p.R653Q)
Variant ID: 20-9523279-C-T
NM_177990.2(
PAK5
):c.1958G>A;(p.R653Q)
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:
Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.
Frontiers In Oncology
Li, Yuping Y; Xie, Yupeng Y; Wang, Di D; Xu, Hanyan H; Ye, Junru J; Yin, Jiani C JC; Chen, Junjie J; Yan, Junrong J; Ye, Bin B; Chen, Chengshui C
Publication Date: 2022
Variant appearance in text: PAK7: 1958G>A
PubMed Link:
36387164
Variant Present in the following documents:
Table_1.xlsx, sheet 1
View BVdb publication page
Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.
Oncotarget
Porkka, Noora N; Valo, Satu S; Nieminen, Taina T TT; Olkinuora, Alisa A; Mäki-Nevala, Satu S; Eldfors, Samuli S; Peltomäki, Päivi P
Publication Date: 2017-12-08
Variant appearance in text: PAK7: R653Q
PubMed Link:
29296220
Variant Present in the following documents:
oncotarget-08-108020-s006.xlsx, sheet 1
View BVdb publication page