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

5 papers

NM_000206.3

p.R222S

c.664C>A

Surrounding Variants

50 papers

NM_000206.3

p.R222C

c.664C>T

1 paper

NM_000206.3

p.Y219_F221delFs

c.657_661del5

1 paper

NM_000206.3

p.V223D

c.668T>A

2 papers

NM_000206.3

p.T220delFs

c.658_659delGT

1 paper

NM_000206.3

p.T220M

c.659C>T

1 paper

NM_000206.3

p.T220fs

c.658_659fs

26 papers

NM_000206.3

p.R224W

c.670C>T

1 paper

NM_000206.3

p.R224G

c.670C>G

4 papers

NM_000206.3

p.Y219N

c.655T>A

4 papers

NM_000206.3

p.S225R

c.673A>C

1 paper

NM_000206.3

p.S225I

c.674G>T

1 paper

NM_000206.3

p.R218H

c.653G>A