Varaico: Literature-Extracted Genetic Variants

Gene:IL12RB1
Variant:p.R242fs

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
1 paper
NM_005535.3
p.R242fs
c.724_725fs
Surrounding Variants
1 paper
NM_005535.3
p.R242R
c.726A>G
1 paper
NM_005535.3
p.S244L
c.731C>T
1 paper
NM_005535.3
p.P239S
c.715C>T
1 paper
NM_005535.3
p.E246K
c.736G>A
1 paper
NM_005535.3
p.Q238E
c.712C>G
7 papers
NM_005535.3
p.P237_Q238insFs
c.711_712insC
4 papers
NM_005535.3
p.P237delFs
c.710delG
1 paper
NM_005535.3
p.N235T
c.704A>C
1 paper
NM_005535.3
p.Q250fs
c.748_749fs
1 paper
NM_005535.3
p.Q250*
c.748C>T
2 papers
NM_005535.3
p.G249_D251Fs
c.747_752delinsAAATFs
2 papers
NM_005535.3
p.G249_D251Fs
c.747_752delinsAAAATFs
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