Varaico: Literature-Extracted Genetic Variants

Gene:FCN3
Variant:p.L109Q

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
1 paper
NM_003665.4
p.L109Q
c.326T>A
Surrounding Variants
1 paper
NM_003665.4
p.L109L
c.325C>T
1 paper
NM_003665.4
p.W106L
c.317G>T
1 paper
NM_003665.4
p.A116S
c.346G>T
1 paper
NM_003665.4
p.A116fs
c.346_347fs
5 papers
NM_003665.4
p.L117fs
c.349_350fs
1 paper
NM_003665.4
p.L117P
c.350T>C
18 papers
NM_003665.4
p.L117delFs
c.349delG
1 paper
NM_003665.4
p.A116_L117delFs
c.348_349delGG
17 papers
NM_003665.4
p.L117fs
c.349_350fs
1 paper
NM_003665.4
p.G100S
c.298G>A
3 papers
NM_003665.4
p.T125A
c.373A>G
1 paper
NM_003665.4
p.E126K
c.376G>A
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