Varaico: Literature-Extracted Genetic Variants

Gene:VPS50
Variant:p.R30Q

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.R30Q
c.89G>A
Surrounding Variants
1 paper
NM_017667.4
p.R30W
c.88C>T
1 paper
NM_017667.4
p.L7F
c.19C>T
1 paper
NM_017667.4
p.S6insFs
c.16_17insG
1 paper
NM_017667.4
p.S6insFs
c.16dupT
1 paper
NM_017667.4
p.K5*
c.13A>T
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