Varaico: Literature-Extracted Genetic Variants

COLEC12

78 papers

RefSeq Summary

This gene encodes a member of the C-lectin family, proteins that possess collagen-like sequences and carbohydrate recognition domains. This protein is a scavenger receptor that displays several functi...

Pfam Domains

COLEC12aa 231–305UCSCCollectin-12-like domain

Collagenaa 441–499UCSCCollagen triple helix repeat (20 copies)

Collagenaa 530–590UCSCCollagen triple helix repeat (20 copies)

Lectin_Caa 624–732UCSCLectin C-type domain

Gene Aliases

HGNC Name

collectin subfamily member 12

HGNC Alias Symbols

SRCL; CL-P1; SCARA4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_130386.3

p.L642V

c.1924C>G

Surrounding Variants

1 paper

NM_130386.3

p.D630E

c.1890T>G

1 paper

NM_130386.3

p.D630E

c.1890T>A

1 paper

NM_130386.3

p.I627M

c.1881T>G

1 paper

NM_130386.3

p.E624Q

c.1870G>C

5 papers

NM_130386.3

p.G606S

c.1816G>A

1 paper

NM_130386.3

p.K656fs

c.1966_1967fs

1 paper

NM_130386.3

p.W665C

c.1995G>T

1 paper

NM_130386.3

p.W665C

c.1995G>C

1 paper

NM_130386.3

p.L668P

c.2003T>C

1 paper

NM_130386.3

p.E672K

c.2014G>A

4 papers

NM_130386.3

p.G606S

c.1816G>A

1 paper

NM_130386.3

p.L594L

c.1780C>T