Varaico: Literature-Extracted Genetic Variants

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.E139Q

c.415G>C

Surrounding Variants

1 paper

NM_021871.4

p.E139K

c.415G>A

1 paper

NM_021871.4

p.I138M

c.414T>G

1 paper

NM_021871.4

p.E139V

c.416A>T

1 paper

NM_021871.4

p.V140I

c.418G>A

1 paper

NM_021871.4

p.I138V

c.412A>G

1 paper

NM_021871.4

p.V140A

c.419T>C

1 paper

NM_021871.4

p.V140D

c.419T>A

1 paper

NM_021871.4

p.L141R

c.422T>G

1 paper

NM_021871.4

p.S136C

c.406A>T

1 paper

NM_021871.4

p.K142E

c.424A>G

1 paper

NM_021871.4

p.K142Q

c.424A>C

1 paper

NM_021871.4

p.R143S

c.427C>A