Varaico: Literature-Extracted Genetic Variants

Gene:GORAB
Variant:p.Q247*

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
4 papers
NM_152281.3
p.Q247*
c.739C>T
Surrounding Variants
1 paper
NM_152281.3
p.E246_Q247insFs
c.738_739ins47
1 paper
NM_152281.3
p.L252delFs
c.754delC
1 paper
NM_152281.3
p.L236_I238del0
c.708_713del6
1 paper
NM_152281.3
p.K235_L236insFs
c.705_706insT
1 paper
NM_152281.3
p.I232fs
c.694_695fs
4 papers
NM_152281.3
p.R262*
c.784C>T
3 papers
NM_152281.3
p.R226_A227insA
c.676_680ins3
1 paper
NM_152281.3
p.Q273R
c.818A>G
2 papers
NM_152281.3
p.E295K
c.883G>A
1 paper
NM_152281.3
p.R306_L307insA
c.916_920ins3
1 paper
NM_152281.3
p.L307*
c.920T>A
1 paper
NM_152281.3
p.L307*
c.920T>G
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