Varaico: Literature-Extracted Genetic Variants

Gene:FGA
Variant:p.P310L

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.P310L
c.929C>T
Surrounding Variants
1 paper
NM_021871.4
p.S312G
c.934A>G
1 paper
NM_021871.4
p.S312insFs
c.934_935insA
5 papers
NM_021871.4
p.S312delFs
c.934delT
1 paper
NM_021871.4
p.N307Y
c.919A>T
1 paper
NM_021871.4
p.G314R
c.940G>A
1 paper
NM_021871.4
p.T315I
c.944C>T
1 paper
NM_021871.4
p.T315fs
c.943_944fs
3 papers
NM_021871.4
p.T305A
c.913A>G
1 paper
NM_021871.4
p.T305P
c.913A>C
1 paper
NM_021871.4
p.S304_T305insFs
c.912_913insA
8 papers
NM_021871.4
p.G316*
c.946G>T
8 papers
NM_021871.4
p.T315delFs
c.945delA
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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."