Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0E2

ATP6V0E2

5 papers

RefSeq Summary

Multisubunit vacuolar-type proton pumps, or H(+)-ATPases, acidify various intracellular compartments, such as vacuoles, clathrin-coated and synaptic vesicles, endosomes, lysosomes, and chromaffin gran...

Pfam Domains

ATP_synt_Haa 9–70UCSCATP synthase subunit H
ATP_synt_Haa 58–101UCSCATP synthase subunit H

Gene Aliases

HGNC Name

ATPase H+ transporting V0 subunit e2

HGNC Previous Symbols

C7orf32; ATP6V0E2L

Papers
RefSeq ID
Protein change
DNA change
1 paper
NM_145230.4
p.P29L
c.86C>T
1 paper
NM_145230.4
p.W52_A55del0
c.154_165del12
1 paper
NM_145230.4
p.E71K
c.211G>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."