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.G72E

c.215G>A

Surrounding Variants

3 papers

NM_004108.3

p.R74P

c.221G>C

2 papers

NM_004108.3

p.R74R

c.222T>C

1 paper

NM_004108.3

p.P77A

c.229C>G

1 paper

NM_004108.3

p.G78E

c.233G>A

1 paper

NM_004108.3

p.P79delFs

c.235delC

2 papers

NM_004108.3

p.P80L

c.239C>T

1 paper

NM_004108.3

p.P85L

c.254C>T

1 paper

NM_004108.3

p.P86L

c.257C>T

2 papers

NM_004108.3

p.P88S

c.262C>T

1 paper

NM_004108.3

p.G90V

c.269G>T

1 paper

NM_004108.3

p.G72E

c.215G>A

2 papers

NM_004108.3

p.N68S

c.203A>G