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

1–12 of 102 variants

35 papers

NM_004108.3

p.A258S

c.772G>T

28 papers

NM_004108.3

p.T236M

c.707C>T

10 papers

NM_004108.3

p.M22L

c.64A>C

8 papers

NM_004108.3

p.Q186R

c.557A>G

6 papers

NM_004108.3

p.R311Q

c.932G>A

5 papers

NM_004108.3

p.R103H

c.308G>A

4 papers

NM_004108.3

p.G57E

c.170G>A

4 papers

NM_004108.3

p.G117S

c.349G>A

4 papers

NM_004108.3

p.N201S

c.602A>G

4 papers

NM_004108.3

p.A264fs

c.790_791fs

3 papers

NM_004108.3

p.R74P

c.221G>C

3 papers

NM_004108.3

p.R103C

c.307C>T