Varaico: Literature-Extracted Genetic Variants

Gene:FGA
Variant:p.Q44E

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.Q44E
c.130C>G
Surrounding Variants
1 paper
NM_021871.4
p.Q44R
c.131A>G
1 paper
NM_021871.4
p.S45F
c.134C>T
1 paper
NM_021871.4
p.S45S
c.135T>G
1 paper
NM_021871.4
p.A46T
c.136G>A
1 paper
NM_021871.4
p.A46D
c.137C>A
1 paper
NM_021871.4
p.E41D
c.123A>C
1 paper
NM_021871.4
p.E41K
c.121G>A
1 paper
NM_021871.4
p.V40V
c.120G>T
1 paper
NM_021871.4
p.V40V
c.120G>C
1 paper
NM_021871.4
p.C47Y
c.140G>A
1 paper
NM_021871.4
p.V40V
c.120G>A
4 papers
NM_021871.4
p.V39delFs
c.117delA
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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."