Varaico: Literature-Extracted Genetic Variants

Gene:IL12RB1
Variant:p.L200V

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.L200V
c.598C>G
Surrounding Variants
1 paper
NM_005535.3
p.L200fs
c.598_599fs
1 paper
NM_005535.3
p.P199P
c.597C>T
2 papers
NM_005535.3
p.L200delFs
c.599delA
4 papers
NM_005535.3
p.E201Q
c.601G>C
1 paper
NM_005535.3
p.L200delFs
c.600delC
16 papers
NM_005535.3
p.C198R
c.592T>C
1 paper
NM_005535.3
p.M202V
c.604A>G
1 paper
NM_005535.3
p.L197F
c.589C>T
1 paper
NM_005535.3
p.C196F
c.587G>T
7 papers
NM_005535.3
p.C196Y
c.587G>A
1 paper
NM_005535.3
p.S195S
c.585C>G
1 paper
NM_005535.3
p.A205S
c.613G>T
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