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

1 paper

NM_002183.4

p.M1I

c.3G>T

Surrounding Variants

2 papers

NM_002183.4

p.M1I

c.3G>A

1 paper

NM_002183.4

p.M1I

c.3G>C

1 paper

NM_002183.4

p.M1_V2insFs

c.3_4insA

1 paper

NM_002183.4

p.W5*

c.14G>A

1 paper

NM_002183.4

p.W5*

c.15G>A

1 paper

NM_002183.4

p.Q18H

c.54A>T

1 paper

NM_002183.4

p.N44K

c.132C>A

1 paper

NM_002183.4

p.N44K

c.132C>G

1 paper

NM_002183.4

p.V53_K54delFs

c.157_161del5

1 paper

NM_002183.4

p.D55D

c.165C>T

1 paper

NM_002183.4

p.E77G

c.230A>G

1 paper

NM_002183.4

p.S91F

c.272C>T