Varaico: Literature-Extracted Genetic Variants

Gene:VPS53
Variant:p.L682L

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
1 paper
NM_001128159.3
p.L682L
c.2046C>T
Surrounding Variants
1 paper
NM_001128159.3
p.H681N
c.2041C>A
1 paper
NM_001128159.3
p.I688V
c.2062A>G
1 paper
NM_001128159.3
p.Q695K
c.2083C>A
8 papers
NM_001128159.3
p.Q695R
c.2084A>G
1 paper
NM_001128159.3
p.I642_Q647delFs
c.1926_1941del16
2 papers
NM_001128159.3
p.Q624R
c.1871A>G
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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."