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.L506fs

c.1516_1517fs

Surrounding Variants

1 paper

NM_021871.4

p.L506delFs

c.1517delA

1 paper

NM_021871.4

p.G508R

c.1522G>C

1 paper

NM_021871.4

p.G508R

c.1522G>A

1 paper

NM_021871.4

p.F509S

c.1526T>C

1 paper

NM_021871.4

p.I503M

c.1509A>G

2 papers

NM_021871.4

p.R510C

c.1528C>T

2 papers

NM_021871.4

p.R510H

c.1529G>A

1 paper

NM_021871.4

p.I503V

c.1507A>G

1 paper

NM_021871.4

p.T499T

c.1497A>C

1 paper

NM_021871.4

p.P514delFs

c.1541delG

3 papers

NM_021871.4

p.D515N

c.1543G>A

1 paper

NM_021871.4

p.G498S

c.1492G>A