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.D404H

c.1210G>C

Surrounding Variants

1 paper

NM_130386.3

p.R400W

c.1198A>T

1 paper

NM_130386.3

p.L399I

c.1195C>A

1 paper

NM_130386.3

p.R393C

c.1177C>T

1 paper

NM_130386.3

p.R393S

c.1177C>A

1 paper

NM_130386.3

p.S418L

c.1253C>T

1 paper

NM_130386.3

p.G432S

c.1294G>A

1 paper

NM_130386.3

p.I440V

c.1318A>G

1 paper

NM_130386.3

p.S362R

c.1086C>G

1 paper

NM_130386.3

p.S362R

c.1086C>A

1 paper

NM_130386.3

p.S362R

c.1084A>C

1 paper

NM_130386.3

p.T359M

c.1076C>T

1 paper

NM_130386.3

p.N345S

c.1034A>G