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

2 papers

NM_021871.4

p.Q347*

c.1039C>T

Surrounding Variants

2 papers

NM_021871.4

p.N346delFs

c.1037delT

1 paper

NM_021871.4

p.Q347R

c.1040A>G

1 paper

NM_021871.4

p.Q347P

c.1040A>C

1 paper

NM_021871.4

p.G345E

c.1034G>A

1 paper

NM_021871.4

p.G345R

c.1033G>A

1 paper

NM_021871.4

p.P349S

c.1045C>T

1 paper

NM_021871.4

p.G350V

c.1049G>T

1 paper

NM_021871.4

p.G350E

c.1049G>A

1 paper

NM_021871.4

p.S343G

c.1027A>G

1 paper

NM_021871.4

p.G342_S343insFs

c.1026_1027insG

3 papers

NM_021871.4

p.G342delFs

c.1025delC

1 paper

NM_021871.4

p.G342A

c.1025G>C