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.S241N

c.722G>A

Surrounding Variants

6 papers

NM_000206.3

p.S241I

c.722G>T

2 papers

NM_000206.3

p.W240C

c.720G>T

3 papers

NM_000206.3

p.W240C

c.720G>C

2 papers

NM_000206.3

p.W240*

c.720G>A

1 paper

NM_000206.3

p.W240L

c.719G>T

2 papers

NM_000206.3

p.W240*

c.719G>A

1 paper

NM_000206.3

p.W240delFs

c.718delA

4 papers

NM_000206.3

p.W240R

c.718T>C

4 papers

NM_000206.3

p.W240R

c.718T>A

1 paper

NM_000206.3

p.W240_H242delFs

c.720_726del7

1 paper

NM_000206.3

p.E239Q

c.715G>C

1 paper

NM_000206.3

p.I244delFs

c.730delT