Varaico: Literature-Extracted Genetic Variants

Gene:IL12RB1
Variant:p.K305*

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
17 papers
NM_005535.3
p.K305*
c.913A>T
Surrounding Variants
1 paper
NM_005535.3
p.A297_G304del8
c.889_911del24
2 papers
NM_005535.3
p.L303_G304insFs
c.909_910insA
1 paper
NM_005535.3
p.P307A
c.919C>G
1 paper
NM_005535.3
p.A295_M306del12
c.883_917del36
1 paper
NM_005535.3
p.Y308_L309del2
c.922_926del6
1 paper
NM_005535.3
p.R299K
c.896G>A
1 paper
NM_005535.3
p.A313S
c.937G>T
1 paper
NM_005535.3
p.K296fs
c.886_887fs
1 paper
NM_005535.3
p.K296R
c.887A>G
1 paper
NM_005535.3
p.Y314H
c.940T>C
1 paper
NM_005535.3
p.P292_A295delFs
c.875_885del11
1 paper
NM_005535.3
p.Y314*
c.942C>G
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