Varaico: Literature-Extracted Genetic Variants

IL2RG

482 papers

RefSeq Summary

The protein encoded by this gene is an important signaling component of many interleukin receptors, including those of interleukin -2, -4, -7 and -21, and is thus referred to as the common gamma chain...

Pfam Domains

TSLPR_D1aa 60–146UCSCCytokine receptor-like factor 2, domain 1

CRLF2-like_D2aa 154–249UCSCCytokine receptor-like factor 2-like, D2 domain

Gene Aliases

HGNC Name

interleukin 2 receptor subunit gamma

HGNC Previous Symbols

SCIDX1; IMD4; CIDX

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

20 papers

NM_000206.3

p.R289*

c.865C>T

Surrounding Variants

1 paper

NM_000206.3

p.R289insFs

c.865_866insC

1 paper

NM_000206.3

p.P288L

c.863C>T

1 paper

NM_000206.3

p.P288S

c.862C>T

1 paper

NM_000206.3

p.T286M

c.857C>T

1 paper

NM_000206.3

p.T286R

c.857C>G

1 paper

NM_000206.3

p.T286fs

c.856_857fs

3 papers

NM_000206.3

p.R285L

c.854G>T

1 paper

NM_000206.3

p.R285Splc

c.855-1G>C

22 papers

NM_000206.3

p.R285Q

c.854G>A

1 paper

NM_000206.3

p.T292del1

c.874_875delGGT

1 paper

NM_000206.3

p.R285Splc

c.855-2A>T

1 paper

NM_000206.3

p.R285Splc

c.855-2A>G