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.V213_D214ins2

c.639_640ins6

Surrounding Variants

1 paper

NM_000206.3

p.V213A

c.638T>C

1 paper

NM_000206.3

p.V213L

c.637G>T

1 paper

NM_000206.3

p.V213L

c.637G>C

1 paper

NM_000206.3

p.D214delFs

c.640delC

1 paper

NM_000206.3

p.S212I

c.635G>T

1 paper

NM_000206.3

p.S212N

c.635G>A

1 paper

NM_000206.3

p.G215E

c.644G>A

1 paper

NM_000206.3

p.Q216K

c.646C>A

1 paper

NM_000206.3

p.S209delFs

c.627delG

1 paper

NM_000206.3

p.L210fs

c.628_629fs

1 paper

NM_000206.3

p.R218C

c.652C>T

1 paper

NM_000206.3

p.R218H

c.653G>A