Varaico: Literature-Extracted Genetic Variants

COLEC10

49 papers

RefSeq Summary

This gene encodes a member of the C-lectin family, proteins that possess collagen-like sequences and carbohydrate recognition domains. The other members of this family are secreted proteins and bind t...

Pfam Domains

Collagenaa 43–96UCSCCollagen triple helix repeat (20 copies)

Collagenaa 62–123UCSCCollagen triple helix repeat (20 copies)

Lectin_Caa 165–272UCSCLectin C-type domain

Gene Aliases

HGNC Name

collectin subfamily member 10

HGNC Alias Symbols

CL-L1; CL-10

Papers

RefSeq ID

Protein change

DNA change

1–12 of 56 variants

6 papers

NM_006438.5

p.R125W

c.373C>T

4 papers

NM_006438.5

p.C176W

c.528C>G

3 papers

NM_006438.5

p.K76delFs

c.226delA

2 papers

NM_006438.5

p.R9*

c.25C>T

2 papers

NM_006438.5

p.T43delFs

c.128_129delCA

2 papers

NM_006438.5

p.G65D

c.194G>A

2 papers

NM_006438.5

p.G80D

c.239G>A

2 papers

NM_006438.5

p.G104fs

c.310_311fs

1 paper

NM_006438.5

p.Q12H

c.36A>T

1 paper

NM_006438.5

p.L15H

c.44T>A

1 paper

NM_006438.5

p.L15delFs

c.45delC

1 paper

NM_006438.5

p.S25G

c.73A>G