Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0D1
Variant:p.R73L

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.R73L
c.218G>T
Surrounding Variants
1 paper
NM_004691.5
p.I70delFs
c.210delG
1 paper
NM_004691.5
p.V69V
c.207C>G
1 paper
NM_004691.5
p.K75_E76del2
c.223_227del6
1 paper
NM_004691.5
p.V80A
c.239T>C
1 paper
NM_004691.5
p.F82S
c.245T>C
1 paper
NM_004691.5
p.F82Y
c.245T>A
1 paper
NM_004691.5
p.R83C
c.247C>T
1 paper
NM_004691.5
p.H84Y
c.250C>T
1 paper
NM_004691.5
p.A62T
c.184G>A
1 paper
NM_004691.5
p.M85insFs
c.254_255insT
1 paper
NM_004691.5
p.H88Y
c.262C>T
1 paper
NM_004691.5
p.N56delFs
c.168delG
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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."