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.L46R

c.137T>G

Surrounding Variants

1 paper

NM_004108.3

p.G51R

c.151G>C

1 paper

NM_004108.3

p.L40R

c.119T>G

1 paper

NM_004108.3

p.P53R

c.158C>G

1 paper

NM_004108.3

p.G54R

c.160G>A

1 paper

NM_004108.3

p.G57R

c.169G>A

4 papers

NM_004108.3

p.G57E

c.170G>A

1 paper

NM_004108.3

p.P59A

c.175C>G

1 paper

NM_004108.3

p.E34Splc

c.101-13T>G

2 papers

NM_004108.3

p.N68S

c.203A>G

1 paper

NM_004108.3

p.G72E

c.215G>A

1 paper

NM_004108.3

p.G72E

c.215G>A

3 papers

NM_004108.3

p.R74P

c.221G>C