Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V1E1
Variant:p.N161S

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.N161S
c.482A>G
Surrounding Variants
1 paper
NM_001696.4
p.D162N
c.484G>A
1 paper
NM_001696.4
p.L173del1
c.517_518delCAG
1 paper
NM_001696.4
p.E175_D176insFs
c.525_526insAG
1 paper
NM_001696.4
p.V144del1
c.430_432delTAC
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
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."