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

2 papers

NM_000206.3

p.F178L

c.532T>C

Surrounding Variants

2 papers

NM_000206.3

p.F178L

c.534C>G

2 papers

NM_000206.3

p.F178L

c.534C>A

3 papers

NM_000206.3

p.L179fs

c.535_536fs

1 paper

NM_000206.3

p.L179*

c.536T>A

1 paper

NM_000206.3

p.N175delFs

c.524_525delGT

1 paper

NM_000206.3

p.F178_L179del2

c.532_536del6

1 paper

NM_000206.3

p.N175delFs

c.525delG

1 paper

NM_000206.3

p.N175fs

c.523_524fs

4 papers

NM_000206.3

p.E171insFs

c.511_512ins5

1 paper

NM_000206.3

p.W174*

c.522G>A

1 paper

NM_000206.3

p.W174*

c.521G>A

2 papers

NM_000206.3

p.C182R

c.544T>C