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.H304Y

c.910C>T

Surrounding Variants

3 papers

NM_000206.3

p.T301_H304delFs

c.903_910del8

1 paper

NM_000206.3

p.E302*

c.904G>T

1 paper

NM_000206.3

p.E302fs

c.904_905fs

1 paper

NM_000206.3

p.T301fs

c.901_902fs

1 paper

NM_000206.3

p.T301delFs

c.902delG

1 paper

NM_000206.3

p.N306K

c.918C>G

1 paper

NM_000206.3

p.N306K

c.918C>A

1 paper

NM_000206.3

p.F307_S308insFs

c.921_922insAT

1 paper

NM_000206.3

p.S308L

c.923C>T

3 papers

NM_000206.3

p.S308*

c.923C>A

1 paper

NM_000206.3

p.L299P

c.896T>C

2 papers

NM_000206.3

p.S308S

c.924G>C