Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0D1
Variant:p.A161delFs

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.A161delFs
c.483delC
Surrounding Variants
2 papers
NM_004691.5
p.A162V
c.485C>T
1 paper
NM_004691.5
p.F163_F164insT
c.487_491ins3
1 paper
NM_004691.5
p.C167S
c.499T>A
1 paper
NM_004691.5
p.C167S
c.500G>C
1 paper
NM_004691.5
p.C167delFs
c.501delG
1 paper
NM_004691.5
p.I180F
c.538A>T
1 paper
NM_004691.5
p.N183S
c.548A>G
1 paper
NM_004691.5
p.T184delFs
c.550delT
1 paper
NM_004691.5
p.K187Q
c.559A>C
1 paper
NM_004691.5
p.K187_A188Splc
c.561+3A>G
1 paper
NM_004691.5
p.A161Splc
c.481+2T>C
1 paper
NM_004691.5
p.A161Splc
c.481+1G>A
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