Varaico: Literature-Extracted Genetic Variants

Gene:IL12RB1
Variant:p.C383Y

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.C383Y
c.1148G>A
Surrounding Variants
6 papers
NM_005535.3
p.T386T
c.1158T>C
1 paper
NM_005535.3
p.G379insFs
c.1136_1137insG
1 paper
NM_005535.3
p.A387A
c.1161G>A
1 paper
NM_005535.3
p.G378E
c.1133G>A
29 papers
NM_005535.3
p.G378R
c.1132G>C
28 papers
NM_005535.3
p.G378R
c.1132G>A
1 paper
NM_005535.3
p.P388P
c.1164G>A
1 paper
NM_005535.3
p.Q389P
c.1166A>C
1 paper
NM_005535.3
p.Q389_D390insFs
c.1167_1168insC
1 paper
NM_005535.3
p.Q376R
c.1127A>G
14 papers
NM_005535.3
p.Q376*
c.1126C>T
3 papers
NM_005535.3
p.P391fs
c.1171_1172fs
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