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.T43delFs

c.127delT

Surrounding Variants

1 paper

NM_000206.3

p.T43fs

c.127_128fs

1 paper

NM_000206.3

p.T44A

c.130A>G

1 paper

NM_000206.3

p.F41L

c.123C>G

1 paper

NM_000206.3

p.M45I

c.135G>A

2 papers

NM_000206.3

p.D39Splc

c.116-1G>T

7 papers

NM_000206.3

p.D39N

c.115G>A

1 paper

NM_000206.3

p.T47insFs

c.140_141dupCT

1 paper

NM_000206.3

p.D48fs

c.142_143fs

1 paper

NM_000206.3

p.D39Splc

c.116-2A>G

2 papers

NM_000206.3

p.T47_L50delFs

c.139_148del10

1 paper

NM_000206.3

p.L50_S51insFs

c.150_151ins4

1 paper

NM_000206.3

p.V52F

c.154G>T