Varaico: Literature-Extracted Genetic Variants

Gene:FGB
Variant:p.L102Q

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.L102Q
c.305T>A
Surrounding Variants
4 papers
NM_005141.5
p.P100S
c.298C>T
1 paper
NM_005141.5
p.D99H
c.295G>C
2 papers
NM_005141.5
p.A98D
c.293C>A
8 papers
NM_005141.5
p.A98T
c.292G>A
1 paper
NM_005141.5
p.A98S
c.292G>T
1 paper
NM_005141.5
p.H97L
c.290A>T
1 paper
NM_005141.5
p.C95*
c.285T>A
1 paper
NM_005141.5
p.C95C
c.285T>C
3 papers
NM_005141.5
p.C95S
c.284G>C
3 papers
NM_005141.5
p.C95S
c.283T>A
1 paper
NM_005141.5
p.D91fs
c.271_272fs
1 paper
NM_005141.5
p.P90delFs
c.270delT
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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."