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

1–12 of 139 variants

5 papers

NM_130386.3

p.G606S

c.1816G>A

4 papers

NM_130386.3

p.G606S

c.1816G>A

3 papers

NM_130386.3

p.I487V

c.1459A>G

3 papers

NM_130386.3

p.W717C

c.2151G>T

3 papers

NM_130386.3

p.W717C

c.2151G>C

2 papers

NM_130386.3

p.T129N

c.386C>A

2 papers

NM_130386.3

p.E308K

c.922G>A

2 papers

NM_130386.3

p.R335C

c.1003C>T

2 papers

NM_130386.3

p.P580delFs

c.1740delG

1 paper

NM_130386.3

p.A6V

c.17C>T

1 paper

NM_130386.3

p.E8V

c.23A>T

1 paper

NM_130386.3

p.F14F

c.42C>T