Varaico: Literature-Extracted Genetic Variants

Gene:FGA
Variant:p.D496N

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
4 papers
NM_021871.4
p.D496N
c.1486G>A
Surrounding Variants
1 paper
NM_021871.4
p.D496Y
c.1486G>T
1 paper
NM_021871.4
p.M495insFs
c.1483dupA
1 paper
NM_021871.4
p.L497V
c.1489T>G
1 paper
NM_021871.4
p.M495fs
c.1483_1484fs
1 paper
NM_021871.4
p.G498S
c.1492G>A
1 paper
NM_021871.4
p.E493K
c.1477G>A
1 paper
NM_021871.4
p.T499T
c.1497A>C
1 paper
NM_021871.4
p.P492S
c.1474C>T
1 paper
NM_021871.4
p.C491F
c.1472G>T
1 paper
NM_021871.4
p.D490E
c.1470C>G
1 paper
NM_021871.4
p.I503V
c.1507A>G
1 paper
NM_021871.4
p.G488D
c.1463G>A
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