Varaico: Literature-Extracted Genetic Variants

Gene:FCN3
Variant:p.H250H

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
2 papers
NM_003665.4
p.H250H
c.750C>T
Surrounding Variants
1 paper
NM_003665.4
p.A252T
c.754G>A
1 paper
NM_003665.4
p.W254R
c.760T>C
1 paper
NM_003665.4
p.C245Y
c.734G>A
1 paper
NM_003665.4
p.A256V
c.767C>T
1 paper
NM_003665.4
p.T233_D239del7
c.697_716del21
2 papers
NM_003665.4
p.N264H
c.790A>C
1 paper
NM_003665.4
p.A236V
c.707C>T
1 paper
NM_003665.4
p.R229K
c.686G>A
1 paper
NM_003665.4
p.R266_A272del7
c.796_815del21
2 papers
NM_173452.3
p.S213R
c.639C>G
NM_003665.4
p.S224R
c.672C>G
2 papers
NM_173452.3
p.S213R
c.639C>A
NM_003665.4
p.S224R
c.672C>A
2 papers
NM_173452.3
p.S213R
c.637A>C
NM_003665.4
p.S224R
c.670A>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."