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.S308_A309Splc

c.924+2T>G

Surrounding Variants

2 papers

NM_000206.3

p.S308_A309Splc

c.924+1G>T

5 papers

NM_000206.3

p.S308_A309Splc

c.924+1G>A

2 papers

NM_000206.3

p.S308S

c.924G>C

4 papers

NM_000206.3

p.S308S

c.924G>A

1 paper

NM_000206.3

p.S308delFs

c.923delG

2 papers

NM_000206.3

p.S308_A309Splc

c.924+5G>C

2 papers

NM_000206.3

p.S308_A309Splc

c.924+5G>A

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.F307_S308insFs

c.921_922insAT

1 paper

NM_000206.3

p.N306K

c.918C>G

1 paper

NM_000206.3

p.N306K

c.918C>A