Varaico: Literature-Extracted Genetic Variants

Gene:VPS50
Variant:p.R569*

VPS50

49 papers

Pfam Domains

Vps54_Naa 54–345UCSCVacuolar-sorting protein 54, of GARP complex
Syndetin_Caa 723–957UCSCSyndetin, C-terminal

Gene Aliases

HGNC Name

VPS50 subunit of EARP/GARPII complex

HGNC Previous Symbol

CCDC132

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017667.4
p.R569*
c.1705C>T
Surrounding Variants
1 paper
NM_017667.4
p.S546F
c.1637C>T
1 paper
NM_017667.4
p.R586W
c.1756C>T
2 papers
NM_017667.4
p.T608del1
c.1822_1823delACA
1 paper
NM_017667.4
p.R493C
c.1477C>T
1 paper
NM_017667.4
p.S492F
c.1475C>T
1 paper
NM_017667.4
p.S476S
c.1428A>G
1 paper
NM_017667.4
p.P473_V474del1
c.1419_1421delTGT
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