Varaico: Literature-Extracted Genetic Variants

Gene:GORAB
Variant:p.V138L

GORAB

52 papers

RefSeq Summary

This gene encodes a member of the golgin family, a group of coiled-coil proteins localized to the Golgi. The encoded protein may function in the secretory pathway. The encoded protein, which also loca...

Pfam Domains

Transcrip_actaa 127–276UCSCTranscriptional activator

Gene Aliases

HGNC Name

golgin, RAB6 interacting

HGNC Previous Symbol

SCYL1BP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152281.3
p.V138L
c.412G>C
Surrounding Variants
1 paper
NM_152281.3
p.L133insFs
c.397_398ins8
1 paper
NM_152281.3
p.C131_K132delFs
c.393_396del4
1 paper
NM_152281.3
p.P129delFs
c.387delA
6 papers
NM_152281.3
p.E123*
c.367G>T
1 paper
NM_152281.3
p.G118delFs
c.353_354delGT
1 paper
NM_152281.3
p.S105_Q106insFs
c.315_316insC
1 paper
NM_152281.3
p.G102_I103insFs
c.306_307insA
5 papers
NM_152281.3
p.G102insFs
c.306dupC
1 paper
NM_152281.3
p.Q101insFs
c.302dupA
1 paper
NM_152281.3
p.Q101fs
c.301_302fs
1 paper
NM_152281.3
p.P100_Q101insA
c.298_302ins3
1 paper
NM_152281.3
p.G96G
c.288T>C
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