Varaico: Literature-Extracted Genetic Variants

Gene:FCN1
Variant:p.Y175C

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
3 papers
NM_002003.5
p.Y175C
c.524A>G
Surrounding Variants
1 paper
NM_002003.5
p.A174E
c.521C>A
1 paper
NM_002003.5
p.A173V
c.518C>T
1 paper
NM_002003.5
p.W172R
c.514T>C
1 paper
NM_002003.5
p.W172R
c.514T>A
9 papers
NM_002003.5
p.S181N
c.542G>A
1 paper
NM_002003.5
p.L188P
c.563T>C
1 paper
NM_002003.5
p.D191A
c.572A>C
1 paper
NM_002003.5
p.W155C
c.465G>T
1 paper
NM_002003.5
p.W155C
c.465G>C
1 paper
NM_002003.5
p.G154D
c.461G>A
1 paper
NM_002003.5
p.G152R
c.454G>C
1 paper
NM_002003.5
p.G152R
c.454G>A
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