Varaico: Literature-Extracted Genetic Variants

Gene:FGA
Variant:p.K48delFs

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
3 papers
NM_021871.4
p.K48delFs
c.143_144delTT
Surrounding Variants
1 paper
NM_021871.4
p.D49V
c.146A>T
1 paper
NM_021871.4
p.K48*
c.142A>T
1 paper
NM_021871.4
p.S50L
c.149C>T
1 paper
NM_021871.4
p.S50*
c.149C>G
1 paper
NM_021871.4
p.C47Y
c.140G>A
1 paper
NM_021871.4
p.S50S
c.150A>C
1 paper
NM_021871.4
p.D51_W52ins10
c.151_155ins30
1 paper
NM_021871.4
p.D51N
c.151G>A
1 paper
NM_021871.4
p.D51A
c.152A>C
1 paper
NM_021871.4
p.A46D
c.137C>A
1 paper
NM_021871.4
p.W52R
c.154T>C
1 paper
NM_021871.4
p.A46T
c.136G>A
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