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.C330*

c.990C>A

Surrounding Variants

16 papers

NM_000206.3

p.R328*

c.982C>T

1 paper

NM_000206.3

p.E334K

c.1000G>A

2 papers

NM_000206.3

p.E327delins

c.979_980delinsTT

3 papers

NM_000206.3

p.E327K

c.979G>A

1 paper

NM_000206.3

p.E327_E334del0

c.981_1001del21

1 paper

NM_000206.3

p.S326N

c.977G>A

1 paper

NM_000206.3

p.Y325*

c.975C>G

1 paper

NM_000206.3

p.Y325*

c.975C>A

1 paper

NM_000206.3

p.P323L

c.968C>T

1 paper

NM_000206.3

p.K338R

c.1013A>G

3 papers

NM_000206.3

p.Q322*

c.964C>T

1 paper

NM_000206.3

p.G340G

c.1020G>T