Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0A4
Variant:p.A394Splc

ATP6V0A4

239 papers

RefSeq Summary

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is ne...

Pfam Domains

V_ATPase_Iaa 27–830UCSCV-type ATPase 116kDa subunit family

Gene Aliases

HGNC Name

ATPase H+ transporting V0 subunit a4

HGNC Previous Symbols

ATP6N1B; ATP6N2; RTA1C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020632.3
p.A394Splc
c.1181-2A>C
Surrounding Variants
1 paper
NM_020632.3
p.A394T
c.1180G>A
2 papers
NM_020632.3
p.A394D
c.1181C>A
1 paper
NM_020632.3
p.A394fs
c.1180_1181fs
1 paper
NM_020632.3
p.P395fs
c.1183_1184fs
3 papers
NM_020632.3
p.P395_Y396insFs
c.1185_1186insC
14 papers
NM_020632.3
p.P395delFs
c.1185delG
6 papers
NM_020632.3
p.Y396fs
c.1186_1187fs
2 papers
NM_020632.3
p.Y396fs
c.1186_1187fs
1 paper
NM_020632.3
p.T397I
c.1190C>T
1 paper
NM_020632.3
p.F405L
c.1213T>C
1 paper
NM_020632.3
p.F405L
c.1215C>G
1 paper
NM_020632.3
p.F405L
c.1215C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."