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.M70R

c.209T>G

Surrounding Variants

1 paper

NM_000206.3

p.M70I

c.210G>A

1 paper

NM_000206.3

p.N71N

c.213T>C

1 paper

NM_000206.3

p.C72R

c.214T>C

1 paper

NM_000206.3

p.E68D

c.204G>C

1 paper

NM_000206.3

p.E68G

c.203A>G

5 papers

NM_000206.3

p.E68*

c.202G>T

21 papers

NM_000206.3

p.E68K

c.202G>A

1 paper

NM_000206.3

p.C72C

c.216C>T

2 papers

NM_000206.3

p.C72*

c.216C>A

1 paper

NM_000206.3

p.V67V

c.201C>T

1 paper

NM_000206.3

p.V67delFs

c.200delA

2 papers

NM_000206.3

p.T73P

c.217A>C