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.R496C

c.1486C>T

Surrounding Variants

1 paper

NM_130386.3

p.P493T

c.1477C>A

1 paper

NM_130386.3

p.P492S

c.1474C>T

1 paper

NM_130386.3

p.G500V

c.1499G>T

1 paper

NM_130386.3

p.A490P

c.1468G>C

1 paper

NM_130386.3

p.P489L

c.1466C>T

1 paper

NM_130386.3

p.G503D

c.1508G>A

3 papers

NM_130386.3

p.I487V

c.1459A>G

1 paper

NM_130386.3

p.G512S

c.1534G>A

1 paper

NM_130386.3

p.G479S

c.1435G>A

1 paper

NM_130386.3

p.P514S

c.1540C>T

1 paper

NM_130386.3

p.G515W

c.1543G>T

1 paper

NM_130386.3

p.G476G

c.1428A>T