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.A209D

c.626C>A

Surrounding Variants

2 papers

NM_021871.4

p.A209T

c.625G>A

1 paper

NM_021871.4

p.I208T

c.623T>C

1 paper

NM_021871.4

p.K210T

c.629A>C

1 paper

NM_021871.4

p.D211H

c.631G>C

2 papers

NM_021871.4

p.D211N

c.631G>A

1 paper

NM_021871.4

p.Q206H

c.618G>T

1 paper

NM_021871.4

p.Q206H

c.618G>C

3 papers

NM_021871.4

p.L212*

c.635T>G

3 papers

NM_021871.4

p.L212*

c.635T>A

1 paper

NM_021871.4

p.Q206P

c.617A>C

1 paper

NM_021871.4

p.L213F

c.637C>T

1 paper

NM_021871.4

p.L212delFs

c.636delT