Varaico: Literature-Extracted Genetic Variants

Gene:IL12RB1
Variant:p.V318D

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.V318D
c.953T>A
Surrounding Variants
1 paper
NM_005535.3
p.N315_V316del2
c.943_947del6
1 paper
NM_005535.3
p.S320P
c.958T>C
2 papers
NM_005535.3
p.S320insFs
c.958_959insT
1 paper
NM_005535.3
p.S321L
c.962C>T
13 papers
NM_005535.3
p.S321*
c.962C>A
3 papers
NM_005535.3
p.N315_V316insA
c.943_947ins3
1 paper
NM_005535.3
p.Y314*
c.942C>G
1 paper
NM_005535.3
p.Y314*
c.942C>A
1 paper
NM_005535.3
p.Y314H
c.940T>C
1 paper
NM_005535.3
p.A313S
c.937G>T
1 paper
NM_005535.3
p.G325G
c.975T>G
1 paper
NM_005535.3
p.Y308_L309del2
c.922_926del6
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