Varaico: Literature-Extracted Genetic Variants

IL12RB2

179 papers

RefSeq Summary

The protein encoded by this gene is a type I transmembrane protein identified as a subunit of the interleukin 12 receptor complex. The coexpression of this and IL12RB1 proteins was shown to lead to th...

Pfam Domains

Lep_receptor_Igaa 28–118UCSCIg-like C2-type domain

LIFR_D4aa 123–182UCSCLeukemia inhibitory factor receptor D4 domain

fn3aa 422–512UCSCFibronectin type III domain

fn3aa 520–615UCSCFibronectin type III domain

Gene Aliases

HGNC Name

interleukin 12 receptor subunit beta 2

HGNC Previous Name

interleukin 12 receptor, beta 2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001374259.2

p.D74Y

c.220G>T

Surrounding Variants

1 paper

NM_001374259.2

p.D74G

c.221A>G

1 paper

NM_001374259.2

p.Y71C

c.212A>G

1 paper

NM_001374259.2

p.L68L

c.202T>C

1 paper

NM_001374259.2

p.R64insFs

c.190_191ins20

1 paper

NM_001374259.2

p.N86S

c.257A>G

1 paper

NM_001374259.2

p.H61_Y62insFs

c.183_184insCC

1 paper

NM_001374259.2

p.S87Y

c.260C>A

1 paper

NM_001374259.2

p.F60S

c.179T>C

1 paper

NM_001374259.2

p.Q88P

c.263A>C

2 papers

NM_001374259.2

p.G95delFs

c.284delG

1 paper

NM_001374259.2

p.T97P

c.289A>C

1 paper

NM_001374259.2

p.C51S

c.151T>A