Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V1D
Variant:p.K210E

ATP6V1D

25 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

ATP-synt_Daa 15–207UCSCATP synthase subunit D

Gene Aliases

HGNC Name

ATPase H+ transporting V1 subunit D

HGNC Previous Symbol

ATP6M

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015994.4
p.K210E
c.628A>G
Surrounding Variants
1 paper
NM_015994.4
p.K209E
c.625A>G
1 paper
NM_015994.4
p.R201T
c.602G>C
1 paper
NM_015994.4
p.A237D
c.710C>A
1 paper
NM_015994.4
p.R201T
c.602G>C
3 papers
NM_015994.4
p.R196*
c.586C>T
1 paper
NM_015994.4
p.I188N
c.563T>A
1 paper
NM_015994.4
p.R182C
c.544C>T
1 paper
NM_015994.4
p.P178S
c.532C>T
1 paper
NM_015994.4
p.L106M
c.316T>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."