Varaico: Literature-Extracted Genetic Variants

Gene:IL12RB1
Variant:p.E597_T598Splc

IL12RB1

365 papers

RefSeq Summary

The protein encoded by this gene is a type I transmembrane protein that belongs to the hemopoietin receptor superfamily. This protein binds to interleukine 12 (IL12) with a low affinity, and is though...

Pfam Domains

fn3aa 447–538UCSCFibronectin type III domain

Gene Aliases

HGNC Name

interleukin 12 receptor subunit beta 1

HGNC Alias Symbol

CD212

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
37 papers
NM_005535.3
p.E597_T598Splc
c.1791+2T>G
Surrounding Variants
1 paper
NM_005535.3
p.E597_T598Splc
c.1791+2T>C
4 papers
NM_005535.3
p.K596E
c.1786A>G
1 paper
NM_005535.3
p.G594G
c.1782A>G
9 papers
NM_005535.3
p.G594E
c.1781G>A
1 paper
NM_005535.3
p.I590V
c.1768A>G
5 papers
NM_005535.3
p.A589delFs
c.1765delC
1 paper
NM_005535.3
p.A589T
c.1765G>A
1 paper
NM_005535.3
p.A589fs
c.1765_1766fs
1 paper
NM_005535.3
p.C578_P584del7
c.1732_1751del21
1 paper
NM_005535.3
p.C585G
c.1753T>G
4 papers
NM_005535.3
p.T583_P584insFs
c.1749_1750dupAC
1 paper
NM_005535.3
p.P584S
c.1750C>T
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