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.L272_I273delFs

c.816_819del4

Surrounding Variants

1 paper

NM_000206.3

p.I274fs

c.820_821fs

1 paper

NM_000206.3

p.I273delFs

c.819delA

2 papers

NM_000206.3

p.I273fs

c.817_818fs

1 paper

NM_000206.3

p.I273fs

c.817_818fs

2 papers

NM_000206.3

p.S275fs

c.823_824fs

1 paper

NM_000206.3

p.L272fs

c.814_815fs

3 papers

NM_000206.3

p.I274_S275insFs

c.820_823dup4

1 paper

NM_000206.3

p.L272F

c.816G>C

1 paper

NM_000206.3

p.S275delFs

c.823delT

1 paper

NM_000206.3

p.S275fs

c.823_824fs

1 paper

NM_000206.3

p.G271E

c.812G>A

2 papers

NM_000206.3

p.G271*

c.811G>T