Varaico: Literature-Extracted Genetic Variants

Gene:VPS53
Variant:p.L328I

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.L328I
c.982C>A
Surrounding Variants
1 paper
NM_001128159.3
p.L344P
c.1031T>C
1 paper
NM_001128159.3
p.R361L
c.1082G>T
1 paper
NM_001128159.3
p.R361H
c.1082G>A
1 paper
NM_001128159.3
p.A313T
c.937G>A
1 paper
NM_001128159.3
p.R308H
c.923G>A
1 paper
NM_001128159.3
p.R308C
c.922C>T
1 paper
NM_001128159.3
p.P307L
c.920C>T
1 paper
NM_001128159.3
p.Y298Y
c.894T>C
1 paper
NM_001128159.3
p.W290*
c.869G>A
1 paper
NM_001128159.3
p.R286K
c.857G>A
1 paper
NM_001128159.3
p.D282G
c.845A>G
1 paper
NM_001128159.3
p.D277_V278Splc
c.832-1G>C
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