Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0D1
Variant:p.E334K

ATP6V0D1

170 papers

RefSeq Summary

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is nec...

Pfam Domains

vATP-synt_AC39aa 16–347UCSCATP synthase (C/AC39) subunit

Gene Aliases

HGNC Name

ATPase H+ transporting V0 subunit d1

HGNC Previous Symbol

ATP6D

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004691.5
p.E334K
c.1000G>A
Surrounding Variants
1 paper
NM_004691.5
p.A333V
c.998C>T
1 paper
NM_004691.5
p.I332I
c.996C>T
1 paper
NM_004691.5
p.I336T
c.1007T>C
1 paper
NM_004691.5
p.I329V
c.985A>G
1 paper
NM_004691.5
p.R341C
c.1021C>T
1 paper
NM_004691.5
p.A342V
c.1025C>T
1 paper
NM_004691.5
p.E325G
c.974A>G
1 paper
NM_004691.5
p.E323del1
c.967_968delCTC
1 paper
NM_004691.5
p.E323insFs
c.968dupA
1 paper
NM_004691.5
p.D345G
c.1034A>G
1 paper
NM_004691.5
p.N346S
c.1037A>G
1 paper
NM_004691.5
p.K320del1
c.958_960delCTT
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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."