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.L183F

c.549G>C

Surrounding Variants

2 papers

NM_000206.3

p.L183delFs

c.548delA

7 papers

NM_000206.3

p.L183S

c.548T>C

4 papers

NM_000206.3

p.L183*

c.548T>A

1 paper

NM_000206.3

p.C182_L183delFs

c.546_549del4

2 papers

NM_000206.3

p.E184G

c.551A>G

4 papers

NM_000206.3

p.C182Y

c.545G>A

1 paper

NM_000206.3

p.H185Y

c.553C>T

3 papers

NM_000206.3

p.L179_E184delFs

c.536_552del17

2 papers

NM_000206.3

p.C182R

c.544T>C

1 paper

NM_000206.3

p.C182fs

c.544_545fs

1 paper

NM_000206.3

p.H185R

c.554A>G

1 paper

NM_000206.3

p.H185_L186insFs

c.555_556insA