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.L317R

c.950T>G

Surrounding Variants

1 paper

NM_000206.3

p.A318V

c.953C>T

1 paper

NM_000206.3

p.K315insFs

c.944dupA

2 papers

NM_000206.3

p.E319fs

c.955_956fs

1 paper

NM_000206.3

p.K315fs

c.943_944fs

1 paper

NM_000206.3

p.K315*

c.943A>T

2 papers

NM_000206.3

p.K315E

c.943A>G

3 papers

NM_000206.3

p.Q322*

c.964C>T

1 paper

NM_000206.3

p.G312R

c.934G>C

1 paper

NM_000206.3

p.P323L

c.968C>T

1 paper

NM_000206.3

p.W310_S311insFs

c.930_931insG

2 papers

NM_000206.3

p.W310*

c.930G>A

2 papers

NM_000206.3

p.W310*

c.929G>A