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.K252E

c.754A>G

Surrounding Variants

2 papers

NM_000206.3

p.S251*

c.752C>G

2 papers

NM_000206.3

p.S251*

c.752C>A

1 paper

NM_000206.3

p.E253K

c.757G>A

1 paper

NM_000206.3

p.T250delFs

c.749delG

1 paper

NM_000206.3

p.E253Splc

c.757+1G>A

1 paper

NM_000206.3

p.N249_T250del1

c.746_748delTAT

1 paper

NM_000206.3

p.N249insFs

c.747dupT

1 paper

NM_000206.3

p.E253Splc

c.757+4A>G

1 paper

NM_000206.3

p.N249T

c.746A>C

1 paper

NM_000206.3

p.S248_N249delFs

c.744_745delTG

2 papers

NM_000206.3

p.S248fs

c.742_743fs

1 paper

NM_000206.3

p.S248N

c.743G>A