Varaico: Literature-Extracted Genetic Variants

IL3RA

91 papers

RefSeq Summary

The protein encoded by this gene is an interleukin 3 specific subunit of a heterodimeric cytokine receptor. The receptor is comprised of a ligand specific alpha subunit and a signal transducing beta s...

Pfam Domains

IL3Ra_Naa 27–97UCSCIL-3 receptor alpha chain N-terminal domain

IL6Ra-bindaa 109–205UCSCInterleukin-6 receptor alpha chain, binding

Gene Aliases

HGNC Name

interleukin 3 receptor subunit alpha

HGNC Alias Symbol

CD123

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_002183.4

p.W226*

c.678G>A

Surrounding Variants

3 papers

NM_002183.4

p.W226*

c.677G>A

1 paper

NM_002183.4

p.K219R

c.656A>G

1 paper

NM_002183.4

p.V200A

c.599T>C

1 paper

NM_002183.4

p.V200L

c.598G>C

1 paper

NM_002183.4

p.D197insFs

c.591dupT

1 paper

NM_002183.4

p.D157_T161del5

c.469_482del15

1 paper

NM_002183.4

p.Y139*

c.417C>A

1 paper

NM_002183.4

p.Y139*

c.417C>G

1 paper

NM_002183.4

p.L138M

c.412C>A

1 paper

NM_002183.4

p.G129E

c.386G>A

1 paper

NM_002183.4

p.A107E

c.320C>A

1 paper

NM_002183.4

p.S100R

c.300T>A