Varaico: Literature-Extracted Genetic Variants

Gene:VPS53
Variant:p.M2R

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.M2R
c.5T>G
Surrounding Variants
1 paper
NM_001128159.3
p.M1I
c.3G>A
1 paper
NM_001128159.3
p.L7L
c.19C>T
1 paper
NM_001128159.3
p.L13L
c.39G>C
1 paper
NM_001128159.3
p.E14A
c.41A>C
1 paper
NM_001128159.3
p.Q29H
c.87G>T
1 paper
NM_001128159.3
p.Q29_V30Splc
c.87+4A>C
1 paper
NM_001128159.3
p.P36R
c.107C>G
1 paper
NM_001128159.3
p.F42L
c.124T>C
1 paper
NM_001128159.3
p.E46K
c.136G>A
1 paper
NM_001128159.3
p.E46G
c.137A>G
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