Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V1E1
Variant:p.V144del1

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
Selected Variant
1 paper
NM_001696.4
p.V144del1
c.430_432delTAC
Surrounding Variants
1 paper
NM_001696.4
p.R135C
c.403C>T
1 paper
NM_001696.4
p.I133insFs
c.397_398ins8
1 paper
NM_001696.4
p.P130delFs
c.390delG
1 paper
NM_001696.4
p.E129G
c.386A>G
1 paper
NM_001696.4
p.L124delFs
c.371delA
1 paper
NM_001696.4
p.G118delFs
c.353_354delTC
1 paper
NM_001696.4
p.G118R
c.352G>C
1 paper
NM_001696.4
p.G118R
c.352G>A
1 paper
NM_001696.4
p.Y112insFs
c.334_335insGG
1 paper
NM_001696.4
p.T109R
c.326C>G
1 paper
NM_001696.4
p.K107T
c.320A>C
1 paper
NM_001696.4
p.Q100*
c.298C>T
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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."