Varaico: Literature-Extracted Genetic Variants

Gene:VPS50
Variant:p.L723L

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.L723L
c.2167C>T
Surrounding Variants
1 paper
NM_017667.4
p.L696L
c.2088C>G
2 papers
NM_017667.4
p.S659_L660Splc
c.1978-1G>T
1 paper
NM_017667.4
p.V770I
c.2308G>A
1 paper
NM_017667.4
p.K778delFs
c.2332delA
1 paper
NM_017667.4
p.K778fs
c.2332_2333fs
3 papers
NM_017667.4
p.L820F
c.2460A>C
2 papers
NM_017667.4
p.L820F
c.2460A>T
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