Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0A4
Variant:p.S765_G766delFs

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.S765_G766delFs
c.2293_2296del4
Surrounding Variants
1 paper
NM_020632.3
p.L767V
c.2299C>G
1 paper
NM_020632.3
p.S765fs
c.2293_2294fs
1 paper
NM_020632.3
p.S765insFs
c.2293_2294insA
1 paper
NM_020632.3
p.S765fs
c.2293_2294fs
1 paper
NM_020632.3
p.N764_Q768del5
c.2290_2303del15
3 papers
NM_020632.3
p.R770*
c.2308C>T
1 paper
NM_020632.3
p.T760P
c.2278A>C
2 papers
NM_020632.3
p.V778fs
c.2332_2333fs
2 papers
NM_020632.3
p.L754R
c.2261T>G
3 papers
NM_020632.3
p.V778delFs
c.2332delC
1 paper
NM_020632.3
p.L754delFs
c.2260delG
3 papers
NM_020632.3
p.Q753Splc
c.2258-1G>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."