Varaico: Literature-Extracted Genetic Variants

Gene:FCN3
Variant:p.K22Q

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.K22Q
c.64A>C
Surrounding Variants
1 paper
NM_003665.4
p.P18fs
c.52_53fs
1 paper
NM_003665.4
p.G17delFs
c.51delC
1 paper
NM_003665.4
p.G31Splc
c.91+2T>A
4 papers
NM_003665.4
p.L12V
c.34C>G
2 papers
NM_003665.4
p.W11C
c.33G>T
1 paper
NM_003665.4
p.P8P
c.24C>A
1 paper
NM_003665.4
p.P8H
c.23C>A
1 paper
NM_003665.4
p.M1T
c.2T>C
1 paper
NM_003665.4
p.P47S
c.139C>T
1 paper
NM_003665.4
p.P50A
c.148C>G
2 papers
NM_003665.4
p.G57E
c.170G>A
1 paper
NM_003665.4
p.A58S
c.172G>T
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