Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0D1
Variant:p.E273E

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.E273E
c.819G>A
Surrounding Variants
1 paper
NM_004691.5
p.E273_L276delFs
c.818_827del10
1 paper
NM_004691.5
p.E279K
c.835G>A
1 paper
NM_004691.5
p.G280S
c.838G>A
1 paper
NM_004691.5
p.A281V
c.842C>T
1 paper
NM_004691.5
p.S283I
c.848G>T
1 paper
NM_004691.5
p.D287insFs
c.859dupG
1 paper
NM_004691.5
p.K288R
c.863A>G
1 paper
NM_004691.5
p.L290L
c.868C>T
1 paper
NM_004691.5
p.E298_V299Splc
c.894+1G>A
1 paper
NM_004691.5
p.P272_E273Splc
c.816+5G>A
1 paper
NM_004691.5
p.A268_P272del0
c.802_816del15
1 paper
NM_004691.5
p.Y270F
c.809A>T
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