Varaico: Literature-Extracted Genetic Variants

Gene:FGA
Variant:p.P53L

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.P53L
c.158C>T
Surrounding Variants
1 paper
NM_021871.4
p.P53S
c.157C>T
1 paper
NM_021871.4
p.F54I
c.160T>A
5 papers
NM_021871.4
p.W52*
c.156G>A
1 paper
NM_021871.4
p.F54S
c.161T>C
1 paper
NM_021871.4
p.S50_F54delFs
c.150_160del11
6 papers
NM_021871.4
p.W52*
c.155G>A
1 paper
NM_021871.4
p.W52R
c.154T>C
3 papers
NM_021871.4
p.C55G
c.163T>G
2 papers
NM_021871.4
p.C55R
c.163T>C
1 paper
NM_021871.4
p.C55F
c.164G>T
1 paper
NM_021871.4
p.D51A
c.152A>C
1 paper
NM_021871.4
p.D51_W52ins10
c.151_155ins30
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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."