Varaico: Literature-Extracted Genetic Variants

Gene:FCN1
Variant:p.T150M

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
4 papers
NM_002003.5
p.T150M
c.449C>T
Surrounding Variants
1 paper
NM_002003.5
p.D151Y
c.451G>T
1 paper
NM_002003.5
p.D149H
c.445G>C
1 paper
NM_002003.5
p.G152R
c.454G>C
1 paper
NM_002003.5
p.G152R
c.454G>A
1 paper
NM_002003.5
p.G154D
c.461G>A
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.R140_P141delFs
c.420_421delGC
1 paper
NM_002003.5
p.R140W
c.418C>T
1 paper
NM_002003.5
p.W131G
c.391T>G
1 paper
NM_002003.5
p.F127S
c.380T>C
1 paper
NM_002003.5
p.R124Q
c.371G>A
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