Varaico: Literature-Extracted Genetic Variants

Gene:FCN1

FCN1

88 papers

RefSeq Summary

The ficolin family of proteins are characterized by the presence of a leader peptide, a short N-terminal segment, followed by a collagen-like region, and a C-terminal fibrinogen-like domain. The colla...

Pfam Domains

Collagenaa 50–110UCSCCollagen triple helix repeat (20 copies)
Fibrinogen_Caa 114–326UCSCFibrinogen beta and gamma chains, C-terminal globular domain

Gene Aliases

HGNC Name

ficolin 1

HGNC Alias Symbol

FCNM

Papers
RefSeq ID
Protein change
DNA change
1–12 of 84 variants
9 papers
NM_002003.5
p.T48T
c.144C>A
9 papers
NM_002003.5
p.S181N
c.542G>A
7 papers
NM_002003.5
p.S201N
c.602G>A
5 papers
NM_002003.5
p.G11G
c.33G>T
5 papers
NM_002003.5
p.A218T
c.652G>A
4 papers
NM_002003.5
p.G91insFs
c.271_272insT
4 papers
NM_002003.5
p.T150M
c.449C>T
4 papers
NM_002003.5
p.D264G
c.791A>G
4 papers
NM_002003.5
p.S268P
c.802T>C
3 papers
NM_002003.5
p.G43D
c.128G>A
3 papers
NM_002003.5
p.Y175C
c.524A>G
3 papers
NM_002003.5
p.G241R
c.721G>C
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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."