Varaico: Literature-Extracted Genetic Variants

Gene:FCN3
Variant:p.T125A

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.T125A
c.373A>G
Surrounding Variants
1 paper
NM_003665.4
p.E126K
c.376G>A
1 paper
NM_003665.4
p.G127_G128insFs
c.381_382insA
1 paper
NM_003665.4
p.G128fs
c.382_383fs
2 papers
NM_003665.4
p.G128fs
c.382_383fs
1 paper
NM_003665.4
p.G129D
c.386G>A
1 paper
NM_003665.4
p.L131_V132Splc
c.393+1G>A
17 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
5 papers
NM_003665.4
p.L117fs
c.349_350fs
1 paper
NM_003665.4
p.A116fs
c.346_347fs
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