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.A251A

c.753C>G

Surrounding Variants

1 paper

NM_130386.3

p.Q246Q

c.738G>A

1 paper

NM_130386.3

p.E260G

c.779A>G

1 paper

NM_130386.3

p.D240H

c.718G>C

1 paper

NM_130386.3

p.T267M

c.800C>T

1 paper

NM_130386.3

p.T267T

c.801G>A

1 paper

NM_130386.3

p.L268L

c.802C>T

1 paper

NM_130386.3

p.S231N

c.692G>A

1 paper

NM_130386.3

p.L223Q

c.668T>A

1 paper

NM_130386.3

p.D285H

c.853G>C

1 paper

NM_130386.3

p.N218S

c.653A>G

1 paper

NM_130386.3

p.Q216H

c.648G>T

1 paper

NM_130386.3

p.Q216H

c.648G>C