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.I567V

c.1699A>G

Surrounding Variants

2 papers

NM_021871.4

p.H563_H564insT

c.1687_1691ins3

7 papers

NM_021871.4

p.P571H

c.1712C>A

1 paper

NM_021871.4

p.S562F

c.1685C>T

8 papers

NM_021871.4

p.R573C

c.1717C>T

8 papers

NM_021871.4

p.R573L

c.1718G>T

3 papers

NM_021871.4

p.R573H

c.1718G>A

6 papers

NM_021871.4

p.G574delins

c.1720_1721delinsTT

6 papers

NM_021871.4

p.E559V

c.1676A>T

3 papers

NM_021871.4

p.K558delFs

c.1673delT

1 paper

NM_021871.4

p.K575insFs

c.1724_1725insT

2 papers

NM_021871.4

p.K575fs

c.1723_1724fs

2 papers

NM_021871.4

p.K575delFs

c.1725delT