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

5 papers

NM_004108.3

p.R103H

c.308G>A

Surrounding Variants

3 papers

NM_004108.3

p.R103C

c.307C>T

1 paper

NM_004108.3

p.C105_K106delFs

c.315_318del4

1 paper

NM_004108.3

p.K106R

c.317A>G

1 paper

NM_004108.3

p.L109L

c.325C>T

2 papers

NM_004108.3

p.H113Y

c.337C>T

4 papers

NM_004108.3

p.G117S

c.349G>A

1 paper

NM_004108.3

p.R127Q

c.380G>A

1 paper

NM_004108.3

p.R127L

c.380G>T

2 papers

NM_004108.3

p.T137M

c.410C>T

1 paper

NM_004108.3

p.G140R

c.418G>A

1 paper

NM_004108.3

p.G101A

c.302G>C

1 paper

NM_004108.3

p.C98C

c.294C>T