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.L221_V222insFs

c.663_664insTT

Surrounding Variants

1 paper

NM_004108.3

p.L223M

c.667C>A

1 paper

NM_004108.3

p.G232R

c.694G>A

1 paper

NM_004108.3

p.F210C

c.629T>G

1 paper

NM_004108.3

p.R208T

c.623G>C

1 paper

NM_004108.3

p.F204_V212delins

c.612_635delinsAATTGAGTCTTAGAAAAGTTAAGC

4 papers

NM_004108.3

p.N201S

c.602A>G

1 paper

NM_004108.3

p.E190E

c.570G>A

1 paper

NM_004108.3

p.S189G

c.565A>G

1 paper

NM_004108.3

p.G187Splc

c.559+5G>A

1 paper

NM_004108.3

p.G187E

c.560G>A

8 papers

NM_004108.3

p.Q186R

c.557A>G

1 paper

NM_004108.3

p.Q186K

c.556C>A