Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0D2

ATP6V0D2

44 papers

Pfam Domains

vATP-synt_AC39aa 16–346UCSCATP synthase (C/AC39) subunit

Gene Aliases

HGNC Name

ATPase H+ transporting V0 subunit d2

HGNC Previous Symbol

ATP6D2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 40 variants
3 papers
NM_152565.1
p.P159L
c.476C>T
2 papers
NM_152565.1
p.L49R
c.146T>G
2 papers
NM_152565.1
p.G272R
c.814G>A
2 papers
NM_152565.1
p.G272R
c.814G>C
2 papers
NM_152565.1
p.E297_V298Splc
c.891+1G>T
1 paper
NM_152565.1
p.V37V
c.111C>T
1 paper
NM_152565.1
p.T41I
c.122C>T
1 paper
NM_152565.1
p.L42V
c.124C>G
1 paper
NM_152565.1
p.H61Q
c.183C>A
1 paper
NM_152565.1
p.H61Q
c.183C>G
1 paper
NM_152565.1
p.Y84S
c.251A>C
1 paper
NM_152565.1
p.T101Splc
c.302+1G>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."