Varaico: Literature-Extracted Genetic Variants

Gene:GORAB
Variant:p.L367delFs

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.L367delFs
c.1101delG
Surrounding Variants
1 paper
NM_001320252.2
p.A210_A211insFs
c.630_631insT
1 paper
NM_152281.3
p.C355insFs
c.1064_1065insA
1 paper
NM_152281.3
p.P353insFs
c.1058_1059insC
1 paper
NM_152281.3
p.P353_N354del2
c.1057_1061del6
1 paper
NM_152281.3
p.F350_L351delFs
c.1050_1053del4
1 paper
NM_152281.3
p.V334delFs
c.1002delT
1 paper
NM_152281.3
p.E325_K328Fs
c.975_983delinsGFs
1 paper
NM_152281.3
p.V318E
c.953T>A
1 paper
NM_152281.3
p.E315G
c.944A>G
1 paper
NM_152281.3
p.E315_E316insC
c.943_947ins3
1 paper
NM_152281.3
p.L307*
c.920T>A
1 paper
NM_152281.3
p.L307*
c.920T>G
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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."