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

1 paper

NM_000206.3

p.S233delFs

c.697delT

Surrounding Variants

1 paper

NM_000206.3

p.C231_S233delins

c.692_697delinsATGACT

1 paper

NM_000206.3

p.A234S

c.700G>T

1 paper

NM_000206.3

p.G232fs

c.694_695fs

2 papers

NM_000206.3

p.G232V

c.695G>T

3 papers

NM_000206.3

p.G232E

c.695G>A

1 paper

NM_000206.3

p.A234_Q235insFs

c.702_703insCG

4 papers

NM_000206.3

p.G232R

c.694G>C

4 papers

NM_000206.3

p.G232R

c.694G>A

2 papers

NM_000206.3

p.Q235*

c.703C>T

3 papers

NM_000206.3

p.C231Y

c.692G>A

3 papers

NM_000206.3

p.C231R

c.691T>C

6 papers

NM_000206.3

p.L230L

c.690C>T