Varaico: Literature-Extracted Genetic Variants

Gene:IL12RB1
Variant:p.H287L

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
5 papers
NM_005535.3
p.H287L
c.860A>T
Surrounding Variants
1 paper
NM_005535.3
p.L289L
c.865C>T
8 papers
NM_005535.3
p.Q285*
c.853C>T
1 paper
NM_005535.3
p.L284delFs
c.850_851delAG
1 paper
NM_005535.3
p.L284P
c.851T>C
2 papers
NM_005535.3
p.L284delFs
c.850delG
1 paper
NM_005535.3
p.L284fs
c.850_851fs
2 papers
NM_005535.3
p.C291S
c.871T>A
2 papers
NM_005535.3
p.C291S
c.872G>C
8 papers
NM_005535.3
p.C291Y
c.872G>A
1 paper
NM_005535.3
p.R283Q
c.848G>A
11 papers
NM_005535.3
p.R283*
c.847C>T
1 paper
NM_005535.3
p.C293S
c.877T>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."