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

3 papers

NM_000206.3

p.R285P

c.854G>C

Surrounding Variants

2 papers

NM_000206.3

p.R285L

c.854G>T

17 papers

NM_000206.3

p.R285Q

c.854G>A

1 paper

NM_000206.3

p.E284delFs

c.850_851delTC

2 papers

NM_000206.3

p.R285Splc

c.854+3G>T

1 paper

NM_000206.3

p.L283delFs

c.849delC

1 paper

NM_000206.3

p.E284*

c.850G>T

3 papers

NM_000206.3

p.R285Splc

c.854+5G>A

1 paper

NM_000206.3

p.L283L

c.849G>A

1 paper

NM_000206.3

p.W282*

c.846G>A

1 paper

NM_000206.3

p.W282*

c.845G>A

1 paper

NM_000206.3

p.W282R

c.844T>C

1 paper

NM_000206.3

p.W282R

c.844T>A