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

8 papers

NM_000206.3

p.Y89C

c.266A>G

Surrounding Variants

1 paper

NM_000206.3

p.Y89*

c.267T>G

2 papers

NM_000206.3

p.Y89H

c.265T>C

1 paper

NM_000206.3

p.Y89*

c.267T>A

1 paper

NM_000206.3

p.W90R

c.268T>C

2 papers

NM_000206.3

p.W90fs

c.268_269fs

2 papers

NM_000206.3

p.H88R

c.263A>G

2 papers

NM_000206.3

p.W90Splc

c.269+1G>T

1 paper

NM_000206.3

p.W90Splc

c.269+2T>A

6 papers

NM_000206.3

p.L87P

c.260T>C

1 paper

NM_000206.3

p.W90Splc

c.269+3A>T

1 paper

NM_000206.3

p.L87M

c.259C>A

1 paper

NM_000206.3

p.T86P

c.256A>C