Varaico: Literature-Extracted Genetic Variants

FCN2

175 papers

RefSeq Summary

The product of this gene belongs to the ficolin family of proteins. This family is characterized by the presence of a leader peptide, a short N-terminal segment, followed by a collagen-like region, an...

Pfam Domains

Collagenaa 39–98UCSCCollagen triple helix repeat (20 copies)

Fibrinogen_Caa 101–313UCSCFibrinogen beta and gamma chains, C-terminal globular domain

Gene Aliases

HGNC Name

ficolin 2

HGNC Alias Symbols

P35; FCNL; EBP-37; ficolin-2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004108.3

p.A288T

c.862G>A

Surrounding Variants

1 paper

NM_004108.3

p.N289S

c.866A>G

1 paper

NM_004108.3

p.G290D

c.869G>A

1 paper

NM_004108.3

p.G285S

c.853G>A

1 paper

NM_004108.3

p.N292Y

c.874A>T

1 paper

NM_004108.3

p.H284Y

c.850C>T

1 paper

NM_004108.3

p.T283S

c.848C>G

1 paper

NM_004108.3

p.T283S

c.847A>T

1 paper

NM_004108.3

p.R278L

c.833G>T

1 paper

NM_004108.3

p.R278_R281del0

c.834_842del9

1 paper

NM_004108.3

p.G277D

c.830G>A

1 paper

NM_004108.3

p.Y301H

c.901T>C

3 papers

NM_004108.3

p.R311*

c.931C>T