Varaico: Literature-Extracted Genetic Variants

FGB

368 papers

RefSeq Summary

The protein encoded by this gene is the beta component of fibrinogen, a blood-borne glycoprotein comprised of three pairs of nonidentical polypeptide chains. Following vascular injury, fibrinogen is c...

Pfam Domains

Fib_alphaaa 91–234UCSCFibrinogen alpha/beta chain family

Fibrinogen_Caa 237–487UCSCFibrinogen beta and gamma chains, C-terminal globular domain

Gene Aliases

HGNC Name

fibrinogen beta chain

HGNC Previous Name

fibrinogen, B beta polypeptide

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005141.5

p.E38_G39Splc

c.115-610G>C

Surrounding Variants

1 paper

NM_005141.5

p.E38_G39Splc

c.115-605C>T

9 papers

NM_005141.5

p.E38_G39Splc

c.115-600A>G

1 paper

NM_005141.5

p.G39delFs

c.117delT

2 papers

NM_005141.5

p.F40_S42insFs

c.118_124dup7

1 paper

NM_005141.5

p.F41S

c.122T>C

9 papers

NM_005141.5

p.R44C

c.130C>T

2 papers

NM_005141.5

p.G45C

c.133G>T

14 papers

NM_005141.5

p.R47*

c.139C>T

1 paper

NM_005141.5

p.P48delFs

c.143_144delCC

1 paper

NM_005141.5

p.P48S

c.142C>T

1 paper

NM_005141.5

p.P48L

c.143C>T

1 paper

NM_005141.5

p.L49V

c.145C>G