Varaico: Literature-Extracted Genetic Variants

Gene:GOLGA1
Variant:p.L317V

GOLGA1

76 papers

RefSeq Summary

The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interaction...

Pfam Domains

GRIPaa 692–734UCSCGRIP domain

Gene Aliases

HGNC Name

golgin A1

HGNC Alias Symbols

golgin-97; MGC33154

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_002077.4
p.L317V
c.949T>G
Surrounding Variants
1 paper
NM_002077.4
p.L321L
c.963G>A
1 paper
NM_002077.4
p.R306*
c.916A>T
1 paper
NM_002077.4
p.E298*
c.892G>T
1 paper
NM_002077.4
p.R342*
c.1024A>T
1 paper
NM_002077.4
p.L268R
c.803T>G
1 paper
NM_002077.4
p.I258T
c.773T>C
1 paper
NM_002077.4
p.T252fs
c.754_755fs
1 paper
NM_002077.4
p.N220S
c.659A>G
1 paper
NM_002077.4
p.E192fs
c.574_575fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."