Varaico: Literature-Extracted Genetic Variants

Gene:VPS50
Variant:p.D958N

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
2 papers
NM_017667.4
p.D958N
c.2872G>A
Surrounding Variants
1 paper
NM_017667.4
p.N915S
c.2744A>G
1 paper
NM_017667.4
p.E901D
c.2703A>C
1 paper
NM_017667.4
p.E901D
c.2703A>T
2 papers
NM_017667.4
p.L879L
c.2635T>C
1 paper
NM_017667.4
p.G873D
c.2618G>A
1 paper
NM_017667.4
p.N865S
c.2594A>G
2 papers
NM_017667.4
p.R838C
c.2512C>T
1 paper
NM_017667.4
p.K835N
c.2505G>C
1 paper
NM_017667.4
p.K835N
c.2505G>T
3 papers
NM_017667.4
p.L820F
c.2460A>C
2 papers
NM_017667.4
p.L820F
c.2460A>T
1 paper
NM_017667.4
p.K778fs
c.2332_2333fs
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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."