Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0A4
Variant:p.F405L

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.F405L
c.1215C>A
Surrounding Variants
1 paper
NM_020632.3
p.F405L
c.1215C>G
1 paper
NM_020632.3
p.F405L
c.1213T>C
1 paper
NM_020632.3
p.M408fs
c.1222_1223fs
2 papers
NM_020632.3
p.V407delFs
c.1221delC
1 paper
NM_020632.3
p.G410E
c.1229G>A
7 papers
NM_020632.3
p.D411Y
c.1231G>T
1 paper
NM_020632.3
p.D411N
c.1231G>A
1 paper
NM_020632.3
p.T397I
c.1190C>T
1 paper
NM_020632.3
p.H414_G415insFs
c.1242_1243insC
2 papers
NM_020632.3
p.Y396fs
c.1186_1187fs
3 papers
NM_020632.3
p.P395_Y396insFs
c.1185_1186insC
14 papers
NM_020632.3
p.P395delFs
c.1185delG
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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."