Varaico: Literature-Extracted Genetic Variants

Gene:IL12RB1
Variant:p.P335H

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.P335H
c.1004C>A
Surrounding Variants
1 paper
NM_005535.3
p.P335insFs
c.1005dupT
2 papers
NM_005535.3
p.A336_D337insG
c.1006_1010ins3
1 paper
NM_005535.3
p.A336fs
c.1006_1007fs
4 papers
NM_005535.3
p.A336Fs
c.1007_1008delinsGFs
3 papers
NM_005535.3
p.L328_H333delFs
c.983_999del17
1 paper
NM_005535.3
p.D337N
c.1009G>A
1 paper
NM_005535.3
p.T338A
c.1012A>G
1 paper
NM_005535.3
p.H339R
c.1016A>G
1 paper
NM_005535.3
p.Q330*
c.988C>T
2 papers
NM_005535.3
p.E341K
c.1021G>A
2 papers
NM_005535.3
p.T340delFs
c.1019_1020delTG
5 papers
NM_005535.3
p.E341Splc
c.1021+1G>C
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