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.G21A

c.62G>C

Surrounding Variants

1 paper

NM_004108.3

p.M22_P33del12

c.64_98del36

10 papers

NM_004108.3

p.M22L

c.64A>C

1 paper

NM_004108.3

p.M22L

c.64A>T

1 paper

NM_004108.3

p.F19Y

c.56T>A

1 paper

NM_004108.3

p.W24delFs

c.72delG

1 paper

NM_004108.3

p.W24*

c.71G>A

1 paper

NM_004108.3

p.W24*

c.72G>A

1 paper

NM_004108.3

p.A25D

c.74C>A

2 papers

NM_004108.3

p.L26P

c.77T>C

1 paper

NM_004108.3

p.L26L

c.78C>T

1 paper

NM_004108.3

p.A28V

c.83C>T

1 paper

NM_004108.3

p.A13S

c.37G>T