Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0D1
Variant:p.L36R

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.L36R
c.107T>G
Surrounding Variants
1 paper
NM_004691.5
p.Y33_N35Fs
c.98_104delinsTCCFs
1 paper
NM_004691.5
p.G22_Y33del12
c.64_98del36
1 paper
NM_004691.5
p.C39S
c.115T>A
1 paper
NM_004691.5
p.C39S
c.116G>C
1 paper
NM_004691.5
p.A25_G26delFs
c.75_76delCG
1 paper
NM_004691.5
p.K24delFs
c.72delC
1 paper
NM_004691.5
p.K24T
c.71A>C
1 paper
NM_004691.5
p.L23P
c.68T>C
1 paper
NM_004691.5
p.R21delFs
c.61delG
1 paper
NM_004691.5
p.V20delFs
c.60delC
1 paper
NM_004691.5
p.L16F
c.48G>C
1 paper
NM_004691.5
p.Y15N
c.43T>A
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