Varaico: Literature-Extracted Genetic Variants

Gene:VPS53
Variant:p.I114V

VPS53

79 papers

Pfam Domains

Vps53_Naa 40–452UCSCVps53, N-terminal
VPS53_Caa 694–778UCSCVacuolar protein sorting-associated protein 53 C-terminus

Gene Aliases

HGNC Name

VPS53 subunit of GARP complex

HGNC Alias Symbols

FLJ10979; HCCS1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001128159.3
p.I114V
c.340A>G
Surrounding Variants
1 paper
NM_001128159.3
p.K117R
c.350A>G
1 paper
NM_001128159.3
p.E127Q
c.379G>C
1 paper
NM_001128159.3
p.D131G
c.392A>G
2 papers
NM_001128159.3
p.H137H
c.411C>T
1 paper
NM_001128159.3
p.T147I
c.440C>T
1 paper
NM_001128159.3
p.T147N
c.440C>A
1 paper
NM_001128159.3
p.Q179P
c.536A>C
1 paper
NM_001128159.3
p.E186D
c.558G>T
1 paper
NM_001128159.3
p.S201S
c.603C>T
1 paper
NM_001128159.3
p.E202K
c.604G>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."