Varaico: Literature-Extracted Genetic Variants

Gene:FGA
Variant:p.K195_D196delFs

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.K195_D196delFs
c.583_586del4
Surrounding Variants
1 paper
NM_021871.4
p.Y197N
c.589T>A
1 paper
NM_021871.4
p.D196G
c.587A>G
3 papers
NM_021871.4
p.D196_Y197insT
c.586_590ins3
1 paper
NM_021871.4
p.D196N
c.586G>A
1 paper
NM_021871.4
p.E198K
c.592G>A
1 paper
NM_021871.4
p.D199V
c.596A>T
1 paper
NM_021871.4
p.D199E
c.597T>G
1 paper
NM_021871.4
p.D199E
c.597T>A
3 papers
NM_021871.4
p.Q200*
c.598C>T
1 paper
NM_021871.4
p.Q200R
c.599A>G
1 paper
NM_021871.4
p.V192E
c.575T>A
1 paper
NM_021871.4
p.V192I
c.574G>A
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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."