Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0A4
Variant:p.R488S

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.R488S
c.1464A>C
Surrounding Variants
1 paper
NM_020632.3
p.N489D
c.1465A>G
1 paper
NM_020632.3
p.N489S
c.1466A>G
1 paper
NM_020632.3
p.G490delFs
c.1468delC
1 paper
NM_020632.3
p.T491A
c.1471A>G
1 paper
NM_020632.3
p.Q484*
c.1450C>T
2 papers
NM_020632.3
p.N493Splc
c.1478+1G>A
7 papers
NM_020632.3
p.S473F
c.1418C>T
1 paper
NM_020632.3
p.G463C
c.1387G>T
2 papers
NM_020632.3
p.T462M
c.1385C>T
1 paper
NM_020632.3
p.T462P
c.1384A>C
2 papers
NM_020632.3
p.S459F
c.1376C>T
1 paper
NM_020632.3
p.S459P
c.1375T>C
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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."