Varaico: Literature-Extracted Genetic Variants

Gene:FGA
Variant:p.L537delFs

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
6 papers
NM_021871.4
p.L537delFs
c.1611delT
Surrounding Variants
2 papers
NM_021871.4
p.G538fs
c.1612_1613fs
2 papers
NM_021871.4
p.G538E
c.1613G>A
4 papers
NM_021871.4
p.F540fs
c.1618_1619fs
1 paper
NM_021871.4
p.M536_L537insC
c.1606_1610ins3
2 papers
NM_021871.4
p.F540insFs
c.1619_1620insCA
1 paper
NM_021871.4
p.F540S
c.1619T>C
2 papers
NM_021871.4
p.M536_F540Fs
c.1606_1620delinsCAFs
1 paper
NM_021871.4
p.V541I
c.1621G>A
6 papers
NM_021871.4
p.F540delFs
c.1620delA
3 papers
NM_021871.4
p.M536_F540del0
c.1606_1620del15
1 paper
NM_021871.4
p.P535T
c.1603C>A
3 papers
NM_021871.4
p.V541fs
c.1621_1622fs
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