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

3 papers

NM_000206.3

p.T198_E199Splc

c.595-1G>T

Surrounding Variants

1 paper

NM_000206.3

p.E199fs

c.595_596fs

3 papers

NM_000206.3

p.E199_Q200Fs

c.596_598delinsTGGATTATFs

2 papers

NM_000206.3

p.Q200H

c.600A>T

2 papers

NM_000206.3

p.Q200H

c.600A>C

1 paper

NM_000206.3

p.S201*

c.602C>A

1 paper

NM_000206.3

p.H206Y

c.616C>T

1 paper

NM_000206.3

p.R205del1

c.613_615delTCT

1 paper

NM_000206.3

p.H206_K207insFs

c.618_619ins4

3 papers

NM_000206.3

p.H206Q

c.618T>G

3 papers

NM_000206.3

p.H206Q

c.618T>A

2 papers

NM_000206.3

p.K207*

c.619A>T

1 paper

NM_000206.3

p.F208delFs

c.623delA