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.P350S

c.1048C>T

Surrounding Variants

1 paper

NM_000206.3

p.S349P

c.1045T>C

2 papers

NM_000206.3

p.A348T

c.1042G>A

1 paper

NM_000206.3

p.N352S

c.1055A>G

1 paper

NM_000206.3

p.Q353P

c.1058A>C

1 paper

NM_000206.3

p.G345delFs

c.1033delC

1 paper

NM_000206.3

p.H354R

c.1061A>G

1 paper

NM_000206.3

p.P356S

c.1066C>T

1 paper

NM_000206.3

p.G340delFs

c.1018_1019delCC

1 paper

NM_000206.3

p.S326_G340del15

c.976_1019del45

1 paper

NM_000206.3

p.G340G

c.1020G>T

1 paper

NM_000206.3

p.P360P

c.1080C>T

2 papers

NM_000206.3

p.P361S

c.1081C>T