Varaico: Literature-Extracted Genetic Variants

Gene:FCN1
Variant:p.N289delFs

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
Selected Variant
1 paper
NM_002003.5
p.N289delFs
c.866delT
Surrounding Variants
1 paper
NM_002003.5
p.N289fs
c.865_866fs
3 papers
NM_002003.5
p.N289S
c.866A>G
1 paper
NM_002003.5
p.S286*
c.857C>A
1 paper
NM_002003.5
p.C283Y
c.848G>A
1 paper
NM_002003.5
p.A281T
c.841G>A
2 papers
NM_002003.5
p.W279*
c.837G>A
2 papers
NM_002003.5
p.W279*
c.836G>A
1 paper
NM_002003.5
p.G303S
c.907G>A
1 paper
NM_002003.5
p.Q275Q
c.825A>G
1 paper
NM_002003.5
p.A271_E272insT
c.811_815ins3
1 paper
NM_002003.5
p.A308V
c.923C>T
1 paper
NM_002003.5
p.C270R
c.808T>C
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