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.S594C

c.1781C>G

Surrounding Variants

1 paper

NM_021871.4

p.T595I

c.1784C>T

1 paper

NM_021871.4

p.R591delFs

c.1771delT

1 paper

NM_021871.4

p.E597G

c.1790A>G

1 paper

NM_021871.4

p.E597A

c.1790A>C

1 paper

NM_021871.4

p.R591fs

c.1771_1772fs

1 paper

NM_021871.4

p.S598S

c.1794C>T

1 paper

NM_021871.4

p.Y589*

c.1767C>G

1 paper

NM_021871.4

p.Y589*

c.1767C>A

1 paper

NM_021871.4

p.K599R

c.1796A>G

1 paper

NM_021871.4

p.S600fs

c.1798_1799fs

1 paper

NM_021871.4

p.S600delFs

c.1798delT

1 paper

NM_021871.4

p.Y601D

c.1801T>G