Varaico: Literature-Extracted Genetic Variants

Gene:FGA
Variant:p.D59N

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.D59N
c.175G>A
Surrounding Variants
1 paper
NM_021871.4
p.D59A
c.176A>C
1 paper
NM_021871.4
p.S50_E58delFs
c.150_172del23
1 paper
NM_021871.4
p.E58A
c.173A>C
1 paper
NM_021871.4
p.W60G
c.178T>G
3 papers
NM_021871.4
p.E58K
c.172G>A
1 paper
NM_021871.4
p.W60*
c.179G>A
1 paper
NM_021871.4
p.W60*
c.180G>A
1 paper
NM_021871.4
p.D57G
c.170A>G
1 paper
NM_021871.4
p.D57A
c.170A>C
2 papers
NM_021871.4
p.W60_N61Splc
c.180+1G>T
5 papers
NM_021871.4
p.W60_N61Splc
c.180+1G>C
4 papers
NM_021871.4
p.W60_N61Splc
c.180+1G>A
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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."