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

1–12 of 599 variants

50 papers

NM_000206.3

p.R222C

c.664C>T

31 papers

NM_000206.3

p.R226C

c.676C>T

27 papers

NM_000206.3

p.R226H

c.677G>A

26 papers

NM_000206.3

p.R224W

c.670C>T

22 papers

NM_000206.3

p.R285Q

c.854G>A

21 papers

NM_000206.3

p.E68K

c.202G>A

20 papers

NM_000206.3

p.R289*

c.865C>T

17 papers

NM_000206.3

p.R285Q

c.854G>A

16 papers

NM_000206.3

p.R328*

c.982C>T

9 papers

NM_000206.3

p.V152A

c.455T>C

8 papers

NM_000206.3

p.P58S

c.172C>T

8 papers

NM_000206.3

p.Y89C

c.266A>G