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.Q305*

c.913C>T

Surrounding Variants

1 paper

NM_130386.3

p.I303T

c.908T>C

2 papers

NM_130386.3

p.E308K

c.922G>A

1 paper

NM_130386.3

p.Q315_D316insC

c.943_947ins3

1 paper

NM_130386.3

p.Q289H

c.867G>T

1 paper

NM_130386.3

p.Q289H

c.867G>C

1 paper

NM_130386.3

p.D285H

c.853G>C

2 papers

NM_130386.3

p.R335C

c.1003C>T

1 paper

NM_130386.3

p.D342N

c.1024G>A

1 paper

NM_130386.3

p.T341_D342delins

c.1023_1024delinsAA

1 paper

NM_130386.3

p.L268L

c.802C>T

1 paper

NM_130386.3

p.T267T

c.801G>A

1 paper

NM_130386.3

p.T267M

c.800C>T