Varaico: Literature-Extracted Genetic Variants

Gene:FGA
Variant:p.P228L

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.P228L
c.683C>T
Surrounding Variants
1 paper
NM_021871.4
p.K227N
c.681A>T
1 paper
NM_021871.4
p.K227N
c.681A>C
1 paper
NM_021871.4
p.K227T
c.680A>C
1 paper
NM_021871.4
p.K227E
c.679A>G
1 paper
NM_021871.4
p.M226I
c.678G>T
1 paper
NM_021871.4
p.K225delFs
c.674delT
1 paper
NM_021871.4
p.M226L
c.676A>T
1 paper
NM_021871.4
p.K225_M226Fs
c.675_676delinsGFs
1 paper
NM_021871.4
p.D231Y
c.691G>T
1 paper
NM_021871.4
p.K225*
c.673A>T
1 paper
NM_021871.4
p.K225Q
c.673A>C
1 paper
NM_021871.4
p.L232L
c.694T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."