Varaico: Literature-Extracted Genetic Variants

COLEC11

65 papers

RefSeq Summary

This gene encodes a member of the collectin family of C-type lectins that possess collagen-like sequences and carbohydrate recognition domains. Collectins are secreted proteins that play important rol...

Pfam Domains

Collagenaa 21–89UCSCCollagen triple helix repeat (20 copies)

Collagenaa 57–116UCSCCollagen triple helix repeat (20 copies)

Lectin_Caa 159–266UCSCLectin C-type domain

Gene Aliases

HGNC Name

collectin subfamily member 11

HGNC Alias Symbols

MGC3279; CL-K1; CL-11

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_024027.5

p.E108G

c.323A>G

Surrounding Variants

1 paper

NM_024027.5

p.G104fs

c.310_311fs

2 papers

NM_024027.5

p.P103delFs

c.309delT

1 paper

NM_024027.5

p.G98S

c.292G>A

1 paper

NM_024027.5

p.E93A

c.278A>C

1 paper

NM_024027.5

p.R81P

c.242G>C

1 paper

NM_024027.5

p.K76delFs

c.226delA

1 paper

NM_024027.5

p.G74A

c.221G>C

1 paper

NM_024027.5

p.G71V

c.212G>T

1 paper

NM_024027.5

p.G110Splc

c.329-22C>T

1 paper

NM_024027.5

p.G123W

c.367G>T

1 paper

NM_024027.5

p.Q131*

c.391C>T

1 paper

NM_024027.5

p.E135K

c.403G>A