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.R190L

c.569G>T

Surrounding Variants

1 paper

NM_000206.3

p.R190P

c.569G>C

1 paper

NM_000206.3

p.D192_W193insG

c.574_578ins3

1 paper

NM_000206.3

p.D192G

c.575A>G

1 paper

NM_000206.3

p.Q188delFs

c.562delG

4 papers

NM_000206.3

p.Q188*

c.562C>T

1 paper

NM_000206.3

p.D192D

c.576C>T

1 paper

NM_000206.3

p.D192E

c.576C>G

3 papers

NM_000206.3

p.D192E

c.576C>A

1 paper

NM_000206.3

p.V187G

c.560T>G

1 paper

NM_000206.3

p.D194insFs

c.580_581insT

1 paper

NM_000206.3

p.L186insFs

c.557dupT

1 paper

NM_000206.3

p.D194Fs

c.581_582delinsTFs