Varaico: Literature-Extracted Genetic Variants

Gene:VPS53
Variant:p.P457L

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.P457L
c.1370C>T
Surrounding Variants
1 paper
NM_001128159.3
p.K452delFs
c.1355delT
1 paper
NM_001128159.3
p.D462N
c.1384G>A
1 paper
NM_001128159.3
p.G465D
c.1394G>A
1 paper
NM_001128159.3
p.R446Q
c.1337G>A
1 paper
NM_001128159.3
p.L440F
c.1318C>T
1 paper
NM_001128159.3
p.S486F
c.1457C>T
1 paper
NM_001128159.3
p.A496S
c.1486G>T
1 paper
NM_018289.4
p.R477*
c.1429C>T
1 paper
NM_001128159.3
p.R506Q
c.1517G>A
2 papers
NM_001128159.3
p.Y508S
c.1523A>C
2 papers
NM_001128159.3
p.Y508delins
c.1523_1524delinsCT
1 paper
NM_001128159.3
p.N516K
c.1548C>A
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