Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0A4
Variant:p.Q753*

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
10 papers
NM_020632.3
p.Q753*
c.2257C>T
Surrounding Variants
9 papers
NM_020632.3
p.Q753Splc
c.2257+1G>A
1 paper
NM_020632.3
p.A752V
c.2255C>T
4 papers
NM_020632.3
p.W745*
c.2235G>A
3 papers
NM_020632.3
p.W745*
c.2234G>A
6 papers
NM_020632.3
p.R743W
c.2227C>T
2 papers
NM_020632.3
p.L742delFs
c.2224delG
2 papers
NM_020632.3
p.S740F
c.2219C>T
3 papers
NM_020632.3
p.A739P
c.2215G>C
2 papers
NM_020632.3
p.L732P
c.2195T>C
4 papers
NM_020632.3
p.Y730*
c.2190C>G
4 papers
NM_020632.3
p.Y730*
c.2190C>A
1 paper
NM_020632.3
p.I725L
c.2173A>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."