Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V1E1

ATP6V1E1

118 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_Eaa 18–216UCSCATP synthase (E/31 kDa) subunit

Gene Aliases

HGNC Name

ATPase H+ transporting V1 subunit E1

HGNC Previous Symbol

ATP6E

Papers
RefSeq ID
Protein change
DNA change
1–12 of 75 variants
3 papers
NM_001696.4
p.R212W
c.634C>T
2 papers
NM_001696.4
p.M1L
c.1A>T
1 paper
NM_001696.4
p.M1V
c.1A>G
1 paper
NM_001696.4
p.M1L
c.1A>C
1 paper
NM_001696.4
p.M1T
c.2T>C
1 paper
NM_001696.4
p.M1K
c.2T>A
1 paper
NM_001696.4
p.M1insFs
c.2dupT
1 paper
NM_001696.4
p.M1I
c.3G>C
1 paper
NM_001696.4
p.M1I
c.3G>A
1 paper
NM_001696.4
p.M1delFs
c.2_3delCA
1 paper
NM_001696.4
p.M1insFs
c.3dupG
1 paper
NM_001696.4
p.M1_L3delFs
c.3_7del5
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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."