Varaico: Literature-Extracted Genetic Variants

Gene:FGB
Variant:p.Q119H

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.Q119H
c.357G>C
Surrounding Variants
1 paper
NM_005141.5
p.E120*
c.358G>T
1 paper
NM_005141.5
p.R121W
c.361A>T
2 papers
NM_005141.5
p.Q118*
c.352C>T
1 paper
NM_005141.5
p.I123V
c.367A>G
1 paper
NM_005141.5
p.I123F
c.367A>T
1 paper
NM_005141.5
p.L116M
c.346T>A
1 paper
NM_005141.5
p.R124*
c.370A>T
1 paper
NM_005141.5
p.S126T
c.377G>C
1 paper
NM_005141.5
p.D128N
c.382G>A
1 paper
NM_005141.5
p.E129K
c.385G>A
1 paper
NM_005141.5
p.E129G
c.386A>G
1 paper
NM_005141.5
p.G109G
c.327A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."