Varaico: Literature-Extracted Genetic Variants

Gene:CRBN
Variant:p.S52R

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.S52R
c.156T>A
Surrounding Variants
1 paper
NM_016302.4
p.S52R
c.156T>G
1 paper
NM_016302.4
p.S52R
c.154A>C
1 paper
NM_016302.4
p.L53L
c.159G>A
1 paper
NM_016302.4
p.T51T
c.153C>T
1 paper
NM_016302.4
p.D50H
c.148G>C
1 paper
NM_016302.4
p.S56*
c.167C>G
1 paper
NM_016302.4
p.S56*
c.167C>A
2 papers
NM_016302.4
p.H57D
c.169C>G
1 paper
NM_016302.4
p.P44L
c.131C>T
1 paper
NM_016302.4
p.K43insFs
c.129dupA
1 paper
NM_016302.4
p.K43K
c.129A>G
1 paper
NM_016302.4
p.K43R
c.128A>G
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