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.D184G

c.551A>G

Surrounding Variants

1 paper

NM_130386.3

p.N191K

c.573T>G

1 paper

NM_130386.3

p.N191K

c.573T>A

1 paper

NM_130386.3

p.S198F

c.593C>T

1 paper

NM_130386.3

p.Q216H

c.648G>T

1 paper

NM_130386.3

p.Q216H

c.648G>C

1 paper

NM_130386.3

p.N218S

c.653A>G

1 paper

NM_130386.3

p.L223Q

c.668T>A

1 paper

NM_130386.3

p.A141V

c.422C>T

1 paper

NM_130386.3

p.S231N

c.692G>A

2 papers

NM_130386.3

p.T129N

c.386C>A

1 paper

NM_130386.3

p.D240H

c.718G>C

1 paper

NM_130386.3

p.Q246Q

c.738G>A