Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0D1
Variant:p.M1insFs

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.M1insFs
c.3dupG
Surrounding Variants
2 papers
NM_004691.5
p.M1T
c.2T>C
1 paper
NM_004691.5
p.P5R
c.14C>G
1 paper
NM_004691.5
p.F9L
c.25T>C
1 paper
NM_004691.5
p.V11M
c.31G>A
1 paper
NM_004691.5
p.F9_V11insFs
c.26_33dup8
1 paper
NM_004691.5
p.D12N
c.34G>A
1 paper
NM_004691.5
p.Y15N
c.43T>A
1 paper
NM_004691.5
p.L16F
c.48G>C
1 paper
NM_004691.5
p.V20delFs
c.60delC
1 paper
NM_004691.5
p.R21delFs
c.61delG
1 paper
NM_004691.5
p.L23P
c.68T>C
1 paper
NM_004691.5
p.K24T
c.71A>C
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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."