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.E8V

c.23A>T

Surrounding Variants

1 paper

NM_130386.3

p.A6V

c.17C>T

1 paper

NM_130386.3

p.F14F

c.42C>T

1 paper

NM_130386.3

p.K17M

c.50A>T

1 paper

NM_130386.3

p.R18W

c.52C>T