Varaico: Literature-Extracted Genetic Variants

Gene:FGA
Variant:p.T457M

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.T457M
c.1370C>T
Surrounding Variants
1 paper
NM_021871.4
p.T457fs
c.1369_1370fs
1 paper
NM_021871.4
p.T456delFs
c.1368delG
7 papers
NM_021871.4
p.R458C
c.1372C>T
1 paper
NM_021871.4
p.R458H
c.1373G>A
2 papers
NM_021871.4
p.T456A
c.1366A>G
1 paper
NM_021871.4
p.T454A
c.1360A>G
1 paper
NM_021871.4
p.S453N
c.1358G>A
1 paper
NM_021871.4
p.S462C
c.1385C>G
2 papers
NM_021871.4
p.T466fs
c.1396_1397fs
2 papers
NM_021871.4
p.T466delFs
c.1398delA
1 paper
NM_021871.4
p.K446R
c.1337A>G
1 paper
NM_021871.4
p.K446E
c.1336A>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."