Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0E1

ATP6V0E1

7 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_Haa 9–70UCSCATP synthase subunit H

Gene Aliases

HGNC Name

ATPase H+ transporting V0 subunit e1

HGNC Previous Symbol

ATP6H

Papers
RefSeq ID
Protein change
DNA change
1 paper
NM_003945.4
p.M1T
c.2T>C
1 paper
NM_003945.4
p.M1_A2ins1
c.3_4insCAC
1 paper
NM_003945.4
p.A2ins10
c.5_6ins30
1 paper
NM_003945.4
p.G5S
c.13G>A
1 paper
NM_003945.4
p.M13_S14ins1
c.39_40insCAC
1 paper
NM_003945.4
p.S14ins10
c.41_42ins30
1 paper
NM_003945.4
p.R34W
c.100C>T
1 paper
NM_003945.4
p.P66L
c.197C>T
1 paper
NM_003945.4
p.W74*
c.221G>A
1 paper
NM_003945.4
p.W74*
c.222G>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."