Varaico: Literature-Extracted Genetic Variants

Gene:GORAB
Variant:p.T178T

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.T178T
c.534T>C
Surrounding Variants
1 paper
NM_152281.3
p.T178delFs
c.534delT
4 papers
NM_152281.3
p.S175F
c.524C>T
1 paper
NM_152281.3
p.M183I
c.549G>C
2 papers
NM_152281.3
p.K190del1
c.568_569delAAG
1 paper
NM_152281.3
p.S200L
c.599C>T
1 paper
NM_152281.3
p.S200delFs
c.600delA
2 papers
NM_152281.3
p.I210_D211insFs
c.630_631insT
2 papers
NM_152281.3
p.D211A
c.632A>C
1 paper
NM_152281.3
p.Y217H
c.649T>C
7 papers
NM_152281.3
p.A220P
c.658G>C
2 papers
NM_152281.3
p.R221Splc
c.662+5G>C
1 paper
NM_152281.3
p.Q151_E152insA
c.451_455ins3
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