Varaico: Literature-Extracted Genetic Variants

Gene:FGA
Variant:p.E30G

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.E30G
c.89A>G
Surrounding Variants
1 paper
NM_021871.4
p.A29A
c.87T>G
3 papers
NM_021871.4
p.G31V
c.92G>T
5 papers
NM_021871.4
p.G31E
c.92G>A
1 paper
NM_021871.4
p.E30del1
c.88_90delTTC
1 paper
NM_021871.4
p.A29V
c.86C>T
1 paper
NM_021871.4
p.A29insFs
c.85_86insG
1 paper
NM_021871.4
p.A29T
c.85G>A
5 papers
NM_021871.4
p.G32*
c.94G>T
3 papers
NM_021871.4
p.G32R
c.94G>C
4 papers
NM_021871.4
p.G32R
c.94G>A
2 papers
NM_021871.4
p.L28P
c.83T>C
4 papers
NM_021871.4
p.G32E
c.95G>A
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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."