Varaico: Literature-Extracted Genetic Variants

Gene:GORAB
Variant:p.Q71L

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
2 papers
NM_152281.3
p.Q71L
c.212A>T
Surrounding Variants
1 paper
NM_152281.3
p.S67L
c.200C>T
4 papers
NM_152281.3
p.Q76insFs
c.227_228insA
1 paper
NM_152281.3
p.L65L
c.193C>T
1 paper
NM_152281.3
p.P78_P79insC
c.232_236ins3
1 paper
NM_152281.3
p.P78fs
c.232_233fs
3 papers
NM_152281.3
p.Q64*
c.190C>T
1 paper
NM_152281.3
p.S81C
c.242C>G
2 papers
NM_152281.3
p.P86delFs
c.257delC
1 paper
NM_152281.3
p.P86S
c.256C>T
1 paper
NM_152281.3
p.L91F
c.271C>T
1 paper
NM_152281.3
p.L51insFs
c.151_152insA
1 paper
NM_152281.3
p.L51fs
c.151_152fs
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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."