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PC c.163G>A ;(p.A55T)
Variant ID: 11-66639316-C-T
NM_001040716.1(
PC
):c.163G>A;(p.A55T)
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 computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.
Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12
Variant appearance in text: PC: A55T
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
View BVdb publication page
A distinct holoenzyme organization for two-subunit pyruvate carboxylase.
Nature Communications
Choi, Philip H PH; Jo, Jeanyoung J; Lin, Yu-Cheng YC; Lin, Min-Han MH; Chou, Chi-Yuan CY; Dietrich, Lars E P LEP; Tong, Liang L
Publication Date: 2016-10-06
Variant appearance in text: PC: A55T
PubMed Link:
27708276
Variant Present in the following documents:
Main text
ncomms12713.pdf
View BVdb publication page
Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease.
Cell
Chou, Christopher M CM; Nelson, Christine C; Tarlé, Susan A SA; Pribila, Jonathan T JT; Bardakjian, Tanya T; Woods, Sean S; Schneider, Adele A; Glaser, Tom T
Publication Date: 2015-04-23
Variant appearance in text: PC: A55T
PubMed Link:
25910211
Variant Present in the following documents:
Main text
View BVdb publication page