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

8 papers

NM_000206.3

p.P58S

c.172C>T

Surrounding Variants

5 papers

NM_000206.3

p.P58T

c.172C>A

1 paper

NM_000206.3

p.P58L

c.173C>T

1 paper

NM_000206.3

p.P58R

c.173C>G

3 papers

NM_000206.3

p.L57H

c.170T>A

1 paper

NM_000206.3

p.P56delFs

c.166delG

2 papers

NM_000206.3

p.E59Q

c.175G>C

1 paper

NM_000206.3

p.V60A

c.179T>C

2 papers

NM_000206.3

p.L55Q

c.164T>A

1 paper

NM_000206.3

p.V60delFs

c.178_179delAC

1 paper

NM_000206.3

p.Q61*

c.181C>T

1 paper

NM_000206.3

p.Q61R

c.182A>G

1 paper

NM_000206.3

p.T54N

c.161C>A