Varaico: Literature-Extracted Genetic Variants

Gene:FCN3
Variant:p.E88V

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.E88V
c.263A>T
Surrounding Variants
3 papers
NM_003665.4
p.R85W
c.253C>T
1 paper
NM_003665.4
p.G78_P80delFs
c.233_239del7
1 paper
NM_003665.4
p.G89Splc
c.266-3C>T
1 paper
NM_003665.4
p.G89V
c.266G>T
1 paper
NM_003665.4
p.G89_R91delFs
c.266_272del7
1 paper
NM_003665.4
p.G100S
c.298G>A
1 paper
NM_003665.4
p.W106L
c.317G>T
1 paper
NM_003665.4
p.L109L
c.325C>T
1 paper
NM_003665.4
p.L109Q
c.326T>A
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
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