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.V323L

c.967G>C

Surrounding Variants

3 papers

NM_002183.4

p.V323L

c.967G>T

1 paper

NM_002183.4

p.T314M

c.941C>T

1 paper

NM_002183.4

p.R327Splc

c.980+21G>A

1 paper

NM_002183.4

p.F335Fs

c.1003delinsGAFs

1 paper

NM_002183.4

p.P339A

c.1015C>G

1 paper

NM_002183.4

p.P339R

c.1016C>G

1 paper

NM_002183.4

p.V374G

c.1121T>G