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

3 papers

NM_130386.3

p.W717C

c.2151G>C

Surrounding Variants

3 papers

NM_130386.3

p.W717C

c.2151G>T

1 paper

NM_130386.3

p.I712V

c.2134A>G

1 paper

NM_130386.3

p.G710V

c.2129G>T

1 paper

NM_130386.3

p.I729M

c.2187T>G

1 paper

NM_130386.3

p.G705E

c.2114G>A

1 paper

NM_130386.3

p.W698C

c.2094G>T

1 paper

NM_130386.3

p.W698C

c.2094G>C

1 paper

NM_130386.3

p.W690R

c.2068T>C

1 paper

NM_130386.3

p.W690R

c.2068T>A

1 paper

NM_130386.3

p.V737L

c.2209G>T

1 paper

NM_130386.3

p.V737L

c.2209G>C

1 paper

NM_130386.3

p.S740F

c.2219C>T