Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0A4
Variant:p.S611R

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.S611R
c.1833C>G
Surrounding Variants
1 paper
NM_020632.3
p.S611R
c.1833C>A
1 paper
NM_020632.3
p.S611R
c.1831A>C
1 paper
NM_020632.3
p.Q607*
c.1819C>T
6 papers
NM_020632.3
p.H604H
c.1812T>C
1 paper
NM_020632.3
p.M619T
c.1856T>C
1 paper
NM_020632.3
p.F620_L621insC
c.1858_1862ins3
1 paper
NM_020632.3
p.W598R
c.1792T>C
1 paper
NM_020632.3
p.W598R
c.1792T>A
1 paper
NM_020632.3
p.K597*
c.1789A>T
3 papers
NM_020632.3
p.I594fs
c.1780_1781fs
5 papers
NM_020632.3
p.A630T
c.1888G>A
1 paper
NM_020632.3
p.P631S
c.1891C>T
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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."