Varaico: Literature-Extracted Genetic Variants

Gene:FGA
Variant:p.E441K

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.E441K
c.1321G>A
Surrounding Variants
1 paper
NM_021871.4
p.L442F
c.1324C>T
1 paper
NM_021871.4
p.K446E
c.1336A>G
1 paper
NM_021871.4
p.K446R
c.1337A>G
1 paper
NM_021871.4
p.T435N
c.1304C>A
1 paper
NM_021871.4
p.V434I
c.1300G>A
1 paper
NM_021871.4
p.K432I
c.1295A>T
1 paper
NM_021871.4
p.H429Q
c.1287C>G
1 paper
NM_021871.4
p.S453N
c.1358G>A
1 paper
NM_021871.4
p.T454A
c.1360A>G
1 paper
NM_021871.4
p.E427E
c.1281G>A
2 papers
NM_021871.4
p.T456A
c.1366A>G
1 paper
NM_021871.4
p.T457fs
c.1369_1370fs
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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."