Varaico: Literature-Extracted Genetic Variants

Gene:FGA
Variant:p.P264L

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.P264L
c.791C>T
Surrounding Variants
2 papers
NM_021871.4
p.E262_R263delFs
c.786_789del4
1 paper
NM_021871.4
p.G265S
c.793G>A
1 paper
NM_021871.4
p.G265A
c.794G>C
1 paper
NM_021871.4
p.G266*
c.796G>T
1 paper
NM_021871.4
p.E268G
c.803A>G
1 paper
NM_021871.4
p.E260G
c.779A>G
1 paper
NM_021871.4
p.M259R
c.776T>G
1 paper
NM_021871.4
p.M259K
c.776T>A
1 paper
NM_021871.4
p.T270I
c.809C>T
1 paper
NM_021871.4
p.R258R
c.772A>C
2 papers
NM_021871.4
p.R271*
c.811C>T
1 paper
NM_021871.4
p.M257V
c.769A>G
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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."