Varaico: Literature-Extracted Genetic Variants

Gene:FGA
Variant:p.C184W

FGA

277 papers

RefSeq Summary

This gene encodes the alpha subunit of the coagulation factor fibrinogen, which is a component of the blood clot. Following vascular injury, the encoded preproprotein is proteolytically processed by t...

Pfam Domains

Fib_alphaaa 49–191UCSCFibrinogen alpha/beta chain family
Fibrinogen_aCaa 445–509UCSCFibrinogen alpha C domain
Fibrinogen_Caa 628–863UCSCFibrinogen beta and gamma chains, C-terminal globular domain

Gene Aliases

HGNC Name

fibrinogen alpha chain

HGNC Previous Name

fibrinogen, A alpha polypeptide

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021871.4
p.C184W
c.552C>G
Surrounding Variants
1 paper
NM_021871.4
p.S179_G182delFs
c.536_546del11
1 paper
NM_021871.4
p.S183fs
c.547_548fs
1 paper
NM_021871.4
p.G182Fs
c.546delinsTATTAAGATCCFs
1 paper
NM_021871.4
p.G182A
c.545G>C
1 paper
NM_021871.4
p.A187T
c.559G>A
1 paper
NM_021871.4
p.G182R
c.544G>C
1 paper
NM_021871.4
p.A187D
c.560C>A
1 paper
NM_021871.4
p.A187delFs
c.559delC
1 paper
NM_021871.4
p.L188V
c.562T>G
1 paper
NM_021871.4
p.R181Q
c.542G>A
4 papers
NM_021871.4
p.R181*
c.541C>T
1 paper
NM_021871.4
p.C180W
c.540T>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."