Varaico: Literature-Extracted Genetic Variants

CRBN

173 papers

RefSeq Summary

This gene encodes a protein related to the Lon protease protein family. In rodents and other mammals this gene product is found in the cytoplasm localized with a calcium channel membrane protein, and ...

Pfam Domains

LON_substr_bdgaa 80–317UCSCATP-dependent protease La (LON) substrate-binding domain

Yippee-Mis18aa 319–437UCSCYippee zinc-binding/DNA-binding /Mis18, centromere assembly

Gene Aliases

HGNC Name

cereblon

HGNC Previous Symbol

MRT2A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_016302.4

p.Q297*

c.889C>T

Surrounding Variants

1 paper

NM_016302.4

p.L299F

c.895C>T

1 paper

NM_016302.4

p.I301fs

c.901_902fs

2 papers

NM_016302.4

p.D291N

c.871G>A

1 paper

NM_016302.4

p.I305insFs

c.913_914dupAT

1 paper

NM_016302.4

p.C287F

c.860G>T

1 paper

NM_016302.4

p.R307*

c.919C>T

2 papers

NM_016302.4

p.L308F

c.922C>T

1 paper

NM_016302.4

p.L308fs

c.922_923fs

1 paper

NM_016302.4

p.R309H

c.926G>A

5 papers

NM_016302.4

p.R283K

c.848G>A

1 paper

NM_016302.4

p.D313H

c.937G>C

1 paper

NM_016302.4

p.D313D

c.939C>T