Varaico: Literature-Extracted Genetic Variants

Gene:FGA
Variant:p.G552S

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.G552S
c.1654G>A
Surrounding Variants
2 papers
NM_021871.4
p.S551delFs
c.1653delA
1 paper
NM_021871.4
p.S546_E550del0
c.1636_1650del15
1 paper
NM_021871.4
p.G552fs
c.1654_1655fs
1 paper
NM_021871.4
p.S551F
c.1652C>T
4 papers
NM_021871.4
p.S551C
c.1652C>G
1 paper
NM_021871.4
p.E550_S551insFs
c.1650_1651insCA
1 paper
NM_021871.4
p.E550insFs
c.1649_1650insCA
1 paper
NM_021871.4
p.E550K
c.1648G>A
1 paper
NM_021871.4
p.G548D
c.1643G>A
1 paper
NM_021871.4
p.R547S
c.1641G>C
1 paper
NM_021871.4
p.T555delFs
c.1665delT
5 papers
NM_021871.4
p.R547delFs
c.1639delT
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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."