Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0D1
Variant:p.Q145L

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.Q145L
c.434A>T
Surrounding Variants
1 paper
NM_004691.5
p.N142_T146del0
c.426_437del12
1 paper
NM_004691.5
p.A148T
c.442G>A
1 paper
NM_004691.5
p.N142D
c.424A>G
1 paper
NM_004691.5
p.L150delFs
c.449delA
1 paper
NM_004691.5
p.N152T
c.455A>C
1 paper
NM_004691.5
p.L155L
c.463C>T
1 paper
NM_004691.5
p.S134ins1
c.400_401insAGC
1 paper
NM_004691.5
p.L155L
c.465G>T
1 paper
NM_004691.5
p.L160F
c.478C>T
1 paper
NM_004691.5
p.H130R
c.389A>G
1 paper
NM_004691.5
p.A161Splc
c.481+1G>A
1 paper
NM_004691.5
p.A161Splc
c.481+2T>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."