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.Q242E

c.724C>G

Surrounding Variants

1 paper

NM_021871.4

p.L241P

c.722T>C

1 paper

NM_021871.4

p.K243N

c.729G>T

1 paper

NM_021871.4

p.Q240P

c.719A>C

3 papers

NM_021871.4

p.Q240*

c.718C>T

1 paper

NM_021871.4

p.V244V

c.732A>T

1 paper

NM_021871.4

p.S239G

c.715A>G

1 paper

NM_021871.4

p.S239R

c.715A>C

1 paper

NM_021871.4

p.P245L

c.734C>T

3 papers

NM_021871.4

p.K238*

c.712A>T

3 papers

NM_021871.4

p.F237insFs

c.711dupT

1 paper

NM_021871.4

p.P246fs

c.736_737fs

1 paper

NM_021871.4

p.F237L

c.711T>G