Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0A4
Variant:p.K336_R337delFs

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.K336_R337delFs
c.1007_1010del4
Surrounding Variants
1 paper
NM_020632.3
p.K336_R337delFs
c.1006_1010del5
1 paper
NM_020632.3
p.A338_L339del1
c.1013_1015delGTG
1 paper
NM_020632.3
p.A338_L339del2
c.1012_1016del6
1 paper
NM_020632.3
p.E340D
c.1020G>T
1 paper
NM_020632.3
p.E340D
c.1020G>C
1 paper
NM_020632.3
p.R334H
c.1001G>A
1 paper
NM_020632.3
p.Q341K
c.1021C>A
3 papers
NM_130841.3
p.M343_E344Splc
c.1029+1G>A
10 papers
NM_020632.3
p.M343_E344Splc
c.1029+5G>A
1 paper
NM_020632.3
p.A330T
c.988G>A
1 paper
NM_020632.3
p.F327Y
c.980T>A
1 paper
NM_020632.3
p.W326_F327ins1
c.978_979insGCC
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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."