Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V1E2

ATP6V1E2

26 papers

Pfam Domains

vATP-synt_Eaa 18–216UCSCATP synthase (E/31 kDa) subunit

Gene Aliases

HGNC Name

ATPase H+ transporting V1 subunit E2

HGNC Previous Symbols

ATP6EL2; ATP6V1EL2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 23 variants
4 papers
NM_001318063.2
p.V46M
c.136G>A
1 paper
NM_001318063.2
p.M1I
c.3G>A
1 paper
NM_001318063.2
p.Q11P
c.32A>C
1 paper
NM_001318063.2
p.F18L
c.52T>C
1 paper
NM_001318063.2
p.F18L
c.54C>G
1 paper
NM_001318063.2
p.F18L
c.54C>A
1 paper
NM_001318063.2
p.E36K
c.106G>A
1 paper
NM_001318063.2
p.K42Q
c.124A>C
1 paper
NM_001318063.2
p.G43*
c.127G>T
1 paper
NM_001318063.2
p.T48S
c.142A>T
1 paper
NM_001318063.2
p.T48S
c.143C>G
1 paper
NM_001318063.2
p.Y56_E61del0
c.166_183del18
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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."