Varaico: Literature-Extracted Genetic Variants

Gene:FCN3
Variant:p.G220Splc

FCN3

104 papers

RefSeq Summary

Ficolins are a group of proteins which consist of a collagen-like domain and a fibrinogen-like domain. In human serum, there are two types of ficolins, both of which have lectin activity. The protein ...

Pfam Domains

Fibrinogen_Caa 89–299UCSCFibrinogen beta and gamma chains, C-terminal globular domain

Gene Aliases

HGNC Name

ficolin 3

HGNC Alias Symbols

FCNH; HAKA1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_003665.4
p.G220Splc
c.658+250C>A
Surrounding Variants
1 paper
NM_003665.4
p.G220Splc
c.658+1G>T
1 paper
NM_003665.4
p.K213Q
c.637A>C
1 paper
NM_003665.4
p.H206R
c.617A>G
2 papers
NM_003665.4
p.G202S
c.604G>A
1 paper
NM_003665.4
p.R199C
c.595C>T
1 paper
NM_003665.4
p.A196V
c.587C>T
4 papers
NM_003665.4
p.E166D
c.498G>T
4 papers
NM_003665.4
p.E166D
c.498G>C
1 paper
NM_003665.4
p.G164E
c.491G>A
1 paper
NM_003665.4
p.G155G
c.465G>C
1 paper
NM_003665.4
p.R145H
c.434G>A
2 papers
NM_173452.3
p.S213R
c.637A>C
NM_003665.4
p.S224R
c.670A>C
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