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.S586*

c.1757C>G

Surrounding Variants

1 paper

NM_130386.3

p.S586*

c.1757C>A

1 paper

NM_130386.3

p.G587*

c.1759G>T

1 paper

NM_130386.3

p.P580insFs

c.1739dupC

2 papers

NM_130386.3

p.P580delFs

c.1740delG

1 paper

NM_130386.3

p.G581fs

c.1741_1742fs

1 paper

NM_130386.3

p.P580fs

c.1738_1739fs

1 paper

NM_130386.3

p.L594L

c.1780C>T

1 paper

NM_130386.3

p.P574L

c.1721C>T

1 paper

NM_130386.3

p.P574S

c.1720C>T

1 paper

NM_130386.3

p.L567F

c.1701G>T

1 paper

NM_130386.3

p.L567F

c.1701G>C

4 papers

NM_130386.3

p.G606S

c.1816G>A