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.P229S

c.685C>T

Surrounding Variants

4 papers

NM_000206.3

p.N228N

c.684C>T

2 papers

NM_000206.3

p.F227delFs

c.681delA

7 papers

NM_000206.3

p.L230P

c.689T>C

3 papers

NM_000206.3

p.F227C

c.680T>G

6 papers

NM_000206.3

p.L230L

c.690C>T

3 papers

NM_000206.3

p.C231R

c.691T>C

1 paper

NM_000206.3

p.F227L

c.679T>C

3 papers

NM_000206.3

p.C231Y

c.692G>A

1 paper

NM_000206.3

p.R226R

c.678C>T

27 papers

NM_000206.3

p.R226H

c.677G>A

4 papers

NM_000206.3

p.G232R

c.694G>C

4 papers

NM_000206.3

p.G232R

c.694G>A