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.T245S

c.733A>T

Surrounding Variants

1 paper

NM_004108.3

p.T245S

c.734C>G

1 paper

NM_004108.3

p.Q248R

c.743A>G

28 papers

NM_004108.3

p.T236M

c.707C>T

1 paper

NM_004108.3

p.C257R

c.769T>C

1 paper

NM_004108.3

p.A258P

c.772G>C

35 papers

NM_004108.3

p.A258S

c.772G>T

4 papers

NM_004108.3

p.A264fs

c.790_791fs

1 paper

NM_004108.3

p.G277D

c.830G>A

1 paper

NM_004108.3

p.R278_R281del0

c.834_842del9

1 paper

NM_004108.3

p.R278L

c.833G>T

1 paper

NM_004108.3

p.T283S

c.847A>T

1 paper

NM_004108.3

p.T283S

c.848C>G