Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V1D

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
1–12 of 21 variants
3 papers
NM_015994.4
p.R196*
c.586C>T
1 paper
NM_015994.4
p.P11S
c.31C>T
1 paper
NM_015994.4
p.S12L
c.35C>T
1 paper
NM_015994.4
p.R22H
c.65G>A
1 paper
NM_015994.4
p.L23S
c.68T>C
1 paper
NM_015994.4
p.K36I
c.107A>T
1 paper
NM_015994.4
p.K36N
c.108A>T
1 paper
NM_015994.4
p.K36N
c.108A>C
1 paper
NM_015994.4
p.L42F
c.124C>T
1 paper
NM_015994.4
p.Q46Q
c.138G>A
1 paper
NM_015994.4
p.N100I
c.299A>T
1 paper
NM_015994.4
p.N100K
c.300T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."