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

1 paper

NM_000206.3

p.V267A

c.800T>C

Surrounding Variants

2 papers

NM_000206.3

p.V267I

c.799G>A

1 paper

NM_000206.3

p.G268C

c.802G>T

1 paper

NM_000206.3

p.G268R

c.802G>C

1 paper

NM_000206.3

p.G268D

c.803G>A

1 paper

NM_000206.3

p.S269T

c.805T>A

1 paper

NM_000206.3

p.I265N

c.794T>A

2 papers

NM_000206.3

p.M270R

c.809T>G

1 paper

NM_000206.3

p.M270fs

c.808_809fs

2 papers

NM_000206.3

p.G271*

c.811G>T

1 paper

NM_000206.3

p.G271E

c.812G>A

1 paper

NM_000206.3

p.L272fs

c.814_815fs

1 paper

NM_000206.3

p.L272F

c.816G>C