Varaico: Literature-Extracted Genetic Variants

Gene:IL12RB1
Variant:p.E341E

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
2 papers
NM_005535.3
p.E341E
c.1023A>G
Surrounding Variants
1 paper
NM_005535.3
p.P342Q
c.1025C>A
1 paper
NM_005535.3
p.E341Splc
c.1022-2A>G
1 paper
NM_005535.3
p.V343L
c.1027G>C
1 paper
NM_005535.3
p.A344V
c.1031C>T
1 paper
NM_005535.3
p.A344delFs
c.1031delG
1 paper
NM_005535.3
p.I347_S348insT
c.1039_1043ins3
1 paper
NM_005535.3
p.V349A
c.1046T>C
1 paper
NM_005535.3
p.A344_T351del8
c.1030_1052del24
1 paper
NM_005535.3
p.N352N
c.1056C>T
1 paper
NM_005535.3
p.T354I
c.1061C>T
5 papers
NM_005535.3
p.T355del1
c.1063_1064delGGT
1 paper
NM_005535.3
p.W358S
c.1073G>C
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