Varaico: Literature-Extracted Genetic Variants

Gene:FCN1
Variant:p.G241R

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.G241R
c.721G>C
Surrounding Variants
3 papers
NM_002003.5
p.G241R
c.721G>A
1 paper
NM_002003.5
p.G245Splc
c.733+1G>A
1 paper
NM_002003.5
p.A218S
c.652G>T
5 papers
NM_002003.5
p.A218T
c.652G>A
1 paper
NM_002003.5
p.S202S
c.606C>T
7 papers
NM_002003.5
p.S201N
c.602G>A
1 paper
NM_002003.5
p.S247Y
c.740C>A
1 paper
NM_002003.5
p.T249M
c.746C>T
4 papers
NM_002003.5
p.D264G
c.791A>G
4 papers
NM_002003.5
p.S268P
c.802T>C
1 paper
NM_002003.5
p.C270R
c.808T>C
1 paper
NM_002003.5
p.A271_E272insT
c.811_815ins3
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