Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V1E1
Variant:p.L225L

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.L225L
c.673T>C
Surrounding Variants
1 paper
NM_001696.4
p.F224_*227del4
c.670_680del12
1 paper
NM_001696.4
p.N221delFs
c.663delG
3 papers
NM_001696.4
p.R212W
c.634C>T
1 paper
NM_001696.4
p.M207R
c.620T>G
1 paper
NM_001696.4
p.I203M
c.609A>G
1 paper
NM_001696.4
p.L200delFs
c.600delC
1 paper
NM_001696.4
p.N194insFs
c.580_581insT
1 paper
NM_001696.4
p.R188C
c.562C>T
1 paper
NM_001696.4
p.Y184del1
c.550_552delATA
1 paper
NM_001696.4
p.E182G
c.545A>G
1 paper
NM_001696.4
p.A178delFs
c.534delA
1 paper
NM_001696.4
p.E175_D176insFs
c.525_526insAG
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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."