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

12 papers

NM_021871.4

p.R168*

c.502C>T

Surrounding Variants

1 paper

NM_021871.4

p.M166K

c.497T>A

1 paper

NM_021871.4

p.L169L

c.507G>A

1 paper

NM_021871.4

p.E170Q

c.508G>C

1 paper

NM_021871.4

p.E170K

c.508G>A

1 paper

NM_021871.4

p.D165E

c.495T>G

1 paper

NM_021871.4

p.D165E

c.495T>A

1 paper

NM_021871.4

p.E170D

c.510G>T

1 paper

NM_021871.4

p.E170D

c.510G>C

1 paper

NM_021871.4

p.E170E

c.510G>A

1 paper

NM_021871.4

p.D165V

c.494A>T

1 paper

NM_021871.4

p.D165G

c.494A>G

32 papers

NM_021871.4

p.E170_V171Splc

c.510+1G>T