Varaico: Literature-Extracted Genetic Variants

Gene:VPS50
Variant:p.L171V

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.L171V
c.511C>G
Surrounding Variants
1 paper
NM_017667.4
p.L170V
c.508C>G
2 papers
NM_017667.4
p.G169V
c.506G>T
1 paper
NM_017667.4
p.R164H
c.491G>A
1 paper
NM_017667.4
p.K117_E118Splc
c.351+2T>C
1 paper
NM_017667.4
p.Q96*
c.286C>T
1 paper
NM_017667.4
p.E87D
c.261G>C
1 paper
NM_017667.4
p.E87D
c.261G>T
1 paper
NM_017667.4
p.E50D
c.150A>C
1 paper
NM_017667.4
p.E50D
c.150A>T
1 paper
NM_017667.4
p.Q48E
c.142C>G
1 paper
NM_017667.4
p.P47fs
c.139_140fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."