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.G474S

c.1420G>A

Surrounding Variants

3 papers

NM_021871.4

p.D473N

c.1417G>A

2 papers

NM_021871.4

p.H475Y

c.1423C>T

3 papers

NM_021871.4

p.P472insFs

c.1415_1416insC

2 papers

NM_021871.4

p.I470insFs

c.1410dupT

1 paper

NM_021871.4

p.V469A

c.1406T>C

2 papers

NM_021871.4

p.T466delFs

c.1398delA

2 papers

NM_021871.4

p.T466fs

c.1396_1397fs

2 papers

NM_021871.4

p.E481delFs

c.1441delC

1 paper

NM_021871.4

p.V482M

c.1444G>A

1 paper

NM_021871.4

p.T484A

c.1450A>G

1 paper

NM_021871.4

p.S485P

c.1453T>C

1 paper

NM_021871.4

p.S462C

c.1385C>G