Varaico: Literature-Extracted Genetic Variants

Gene:IL12RB1
Variant:p.T257A

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.T257A
c.769A>G
Surrounding Variants
4 papers
NM_005535.3
p.R255delFs
c.765delC
1 paper
NM_005535.3
p.R254delFs
c.762delC
1 paper
NM_005535.3
p.Q261R
c.782A>G
5 papers
NM_005535.3
p.Q261_P262Splc
c.783+1G>C
22 papers
NM_005535.3
p.Q261_P262Splc
c.783+1G>A
2 papers
NM_005535.3
p.G249_D251Fs
c.747_752delinsAAATFs
2 papers
NM_005535.3
p.G249_D251Fs
c.747_752delinsAAAATFs
1 paper
NM_005535.3
p.Q250fs
c.748_749fs
1 paper
NM_005535.3
p.Q250*
c.748C>T
1 paper
NM_005535.3
p.E246K
c.736G>A
1 paper
NM_005535.3
p.S244L
c.731C>T
1 paper
NM_005535.3
p.R242R
c.726A>G
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