Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0A4
Variant:p.W190R

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.W190R
c.568T>A
Surrounding Variants
1 paper
NM_020632.3
p.L188_L189del2
c.562_566del6
4 papers
NM_020632.3
p.R191*
c.571C>T
1 paper
NM_020632.3
p.R191Q
c.572G>A
1 paper
NM_020632.3
p.I192V
c.574A>G
1 paper
NM_020632.3
p.I192N
c.575T>A
1 paper
NM_020632.3
p.C193S
c.577T>A
1 paper
NM_020632.3
p.R187W
c.559C>T
1 paper
NM_020632.3
p.C193S
c.578G>C
13 papers
NM_020632.3
p.R194*
c.580C>T
2 papers
NM_020632.3
p.F185S
c.554T>C
1 paper
NM_020632.3
p.F185I
c.553T>A
1 paper
NM_020632.3
p.N196N
c.588C>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."