Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0D1
Variant:p.P249S

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
2 papers
NM_004691.5
p.P249S
c.745C>T
Surrounding Variants
1 paper
NM_004691.5
p.G245V
c.734G>T
1 paper
NM_004691.5
p.C244Y
c.731G>A
1 paper
NM_004691.5
p.A258T
c.772G>A
2 papers
NM_004691.5
p.R237P
c.710G>C
1 paper
NM_004691.5
p.K234T
c.701A>C
1 paper
NM_004691.5
p.L232L
c.696G>A
1 paper
NM_004691.5
p.F228I
c.682T>A
1 paper
NM_004691.5
p.Y270F
c.809A>T
1 paper
NM_004691.5
p.N226delFs
c.676delT
1 paper
NM_004691.5
p.A268_P272del0
c.802_816del15
1 paper
NM_004691.5
p.P272_E273Splc
c.816+5G>A
1 paper
NM_004691.5
p.A220T
c.658G>A
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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."