Varaico: Literature-Extracted Genetic Variants

Gene:FCN1
Variant:p.L12V

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.L12V
c.34C>G
Surrounding Variants
5 papers
NM_002003.5
p.G11G
c.33G>T
1 paper
NM_002003.5
p.G11G
c.33G>C
1 paper
NM_002003.5
p.A13T
c.37G>A
1 paper
NM_002003.5
p.V14L
c.40G>C
1 paper
NM_002003.5
p.V17A
c.50T>C
1 paper
NM_002003.5
p.H21Y
c.61C>T
1 paper
NM_002003.5
p.E2insFs
c.4_5insT
1 paper
NM_002003.5
p.I22L
c.64A>C
1 paper
NM_002003.5
p.M1insFs
c.2_3insT
1 paper
NM_002003.5
p.M1T
c.2T>C
1 paper
NM_002003.5
p.K23N
c.69G>T
1 paper
NM_002003.5
p.K23N
c.69G>C
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