Varaico: Literature-Extracted Genetic Variants

Gene:FGA
Variant:p.R547delFs

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
5 papers
NM_021871.4
p.R547delFs
c.1639delT
Surrounding Variants
1 paper
NM_021871.4
p.M536_S546del11
c.1606_1637del33
1 paper
NM_021871.4
p.R547S
c.1641G>C
2 papers
NM_021871.4
p.R547fs
c.1639_1640fs
1 paper
NM_021871.4
p.G548D
c.1643G>A
16 papers
NM_021871.4
p.E545V
c.1634A>T
7 papers
NM_021871.4
p.E545K
c.1633G>A
7 papers
NM_021871.4
p.T544delFs
c.1632delA
1 paper
NM_021871.4
p.E550K
c.1648G>A
1 paper
NM_021871.4
p.E550insFs
c.1649_1650insCA
1 paper
NM_021871.4
p.T544fs
c.1630_1631fs
1 paper
NM_021871.4
p.E550_S551insFs
c.1650_1651insCA
7 papers
NM_021871.4
p.E543delFs
c.1629delC
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