Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0A4
Variant:p.V2A

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
19 papers
NM_020632.3
p.V2A
c.5T>C
Surrounding Variants
2 papers
NM_020632.3
p.V2insFs
c.4_5insT
3 papers
NM_020632.3
p.V2delFs
c.5delA
5 papers
NM_020632.3
p.M1insFs
c.2dupT
1 paper
NM_020632.3
p.M1insFs
c.2_3insA
4 papers
NM_020632.3
p.M1T
c.2T>C
1 paper
NM_020632.3
p.S3S
c.9T>A
9 papers
NM_020632.3
p.R6*
c.16C>T
1 paper
NM_020632.3
p.V4_F5delFs
c.12_15del4
1 paper
NM_020632.3
p.V4_F5delFs
c.11_15del5
1 paper
NM_020632.3
p.R6_S7delFs
c.17_20del4
1 paper
NM_020632.3
p.R6_S7delFs
c.18_21del4
1 paper
NM_020632.3
p.E9del1
c.25_26delCTC
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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."