Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0A4
Variant:p.E20K

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.E20K
c.58G>A
Surrounding Variants
1 paper
NM_020632.3
p.L17_E20del4
c.49_59del12
1 paper
NM_020632.3
p.Q18fs
c.52_53fs
1 paper
NM_020632.3
p.Q18_A21del4
c.52_62del12
2 papers
NM_020632.3
p.Q18*
c.52C>T
1 paper
NM_020632.3
p.L12_L15del4
c.34_44del12
1 paper
NM_020632.3
p.C11_L15del5
c.31_44del15
1 paper
NM_020632.3
p.L15Q
c.44T>A
1 paper
NM_020632.3
p.Q14*
c.40C>T
1 paper
NM_020632.3
p.L12delFs
c.36delC
1 paper
NM_020632.3
p.L12fs
c.34_35fs
1 paper
NM_020632.3
p.C25_A27del3
c.73_80del9
1 paper
NM_020632.3
p.E9del1
c.25_26delCTC
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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."