Varaico: Literature-Extracted Genetic Variants

Gene:IL12RB1
Variant:p.Q214R

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
39 papers
NM_005535.3
p.Q214R
c.641A>G
Surrounding Variants
1 paper
NM_005535.3
p.Q214*
c.640C>T
1 paper
NM_005535.3
p.L215L
c.643C>T
4 papers
NM_005535.3
p.L215insFs
c.644dupT
2 papers
NM_005535.3
p.L210_L215insFs
c.628_644dup17
24 papers
NM_005535.3
p.R213W
c.637C>T
1 paper
NM_005535.3
p.G216fs
c.646_647fs
9 papers
NM_005535.3
p.R212Q
c.635G>A
1 paper
NM_005535.3
p.V204_R212delins
c.612_635delinsAATTGAGTCTTAGAAAAGTTAAGC
4 papers
NM_005535.3
p.R212*
c.634C>T
1 paper
NM_005535.3
p.R211delFs
c.633delT
15 papers
NM_005535.3
p.R211P
c.632G>C
9 papers
NM_005535.3
p.R211*
c.631C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."