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ATP6V0D2 c.814G>A ;(p.G272R)
Variant ID: 8-87162515-G-A
NM_152565.1(
ATP6V0D2
):c.814G>A;(p.G272R)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.
Cancer Research Communications
Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S
Publication Date: 2022-11
Variant appearance in text: ATP6V0D2: G272R; rs10094744
PubMed Link:
36643868
Variant Present in the following documents:
crc-22-0245-s07.xlsx, sheet 1
View BVdb publication page
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015
Variant appearance in text: rs10094744
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, sheet 1
View BVdb publication page
Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders.
Amino Acids
Nava, Caroline C; Rupp, Johanna J; Boissel, Jean-Paul JP; Mignot, Cyril C; Rastetter, Agnès A; Amiet, Claire C; Jacquette, Aurélia A; Dupuits, Céline C; Bouteiller, Delphine D; Keren, Boris B; Ruberg, Merle M; Faudet, Anne A; Doummar, Diane D; Philippe, Anne A; Périsse, Didier D; Laurent, Claudine C; Lebrun, Nicolas N; Guillemot, Vincent V; Chelly, Jamel J; Cohen, David D; Héron, Delphine D; Brice, Alexis A; Closs, Ellen I EI; Depienne, Christel C
Publication Date: 2015-12
Variant appearance in text: ATP6V0D2: G272R; rs10094744
PubMed Link:
26215737
Variant Present in the following documents:
726_2015_2057_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page
GESPA: classifying nsSNPs to predict disease association.
Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25
Variant appearance in text: N/A
PubMed Link:
26206375
Variant Present in the following documents:
View BVdb publication page