Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0A4
Variant:p.E9del1

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.E9del1
c.25_26delCTC
Surrounding Variants
1 paper
NM_020632.3
p.L12fs
c.34_35fs
1 paper
NM_020632.3
p.R6_S7delFs
c.18_21del4
1 paper
NM_020632.3
p.R6_S7delFs
c.17_20del4
1 paper
NM_020632.3
p.L12delFs
c.36delC
9 papers
NM_020632.3
p.R6*
c.16C>T
1 paper
NM_020632.3
p.Q14*
c.40C>T
1 paper
NM_020632.3
p.V4_F5delFs
c.12_15del4
1 paper
NM_020632.3
p.V4_F5delFs
c.11_15del5
1 paper
NM_020632.3
p.L15Q
c.44T>A
1 paper
NM_020632.3
p.S3S
c.9T>A
1 paper
NM_020632.3
p.C11_L15del5
c.31_44del15
1 paper
NM_020632.3
p.L12_L15del4
c.34_44del12
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."