YWHAQ c.454G>T ;(p.A152S)

Variant ID: 2-9728422-C-A

NM_006826.3(YWHAQ):c.454G>T;(p.A152S)

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:

KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs371354151
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page


KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs371354151
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page


Identification and molecular characterization of mutations in nucleocapsid phosphoprotein of SARS-CoV-2.

Peerj
Azad, Gajendra Kumar GK
Publication Date: 2021

Variant appearance in text: 14-3-3: A152S
PubMed Link: 33505806
Variant Present in the following documents:
  • Main text
  • peerj-09-10666.pdf
View BVdb publication page


Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications
Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H
Publication Date: 2019-09-12

Variant appearance in text: YWHAQ: 454G>T; A152S; rs371354151
PubMed Link: 31515488
Variant Present in the following documents:
  • 41467_2019_11959_MOESM11_ESM.xlsx, sheet 1
  • 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page