Varaico: Literature-Extracted Genetic Variants

CSF2RA

75 papers

RefSeq Summary

The protein encoded by this gene is the alpha subunit of the heterodimeric receptor for colony stimulating factor 2, a cytokine which controls the production, differentiation, and function of granuloc...

Pfam Domains

IL3Ra_Naa 35–112UCSCIL-3 receptor alpha chain N-terminal domain

IL6Ra-bindaa 123–215UCSCInterleukin-6 receptor alpha chain, binding

Gene Aliases

HGNC Name

colony stimulating factor 2 receptor subunit alpha

HGNC Previous Symbol

CSF2R

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

8 papers

NM_172245.4

p.R217*

c.649C>T

Surrounding Variants

1 paper

NM_172245.4

p.S222N

c.665G>A

1 paper

NM_172245.4

p.V226I

c.676G>A

1 paper

NM_172245.4

p.K238E

c.712A>G

1 paper

NM_172245.4

p.P240L

c.719C>T

1 paper

NM_172245.4

p.R241G

c.721A>G

1 paper

NM_172245.4

p.S247*

c.740C>A

1 paper

NM_172245.4

p.K214R

c.641A>G

1 paper

NM_172245.4

p.E200_Q204del5

c.598_611del15

5 papers

NM_172245.4

p.R199*

c.595C>T

1 paper

NM_172245.4

p.T197P

c.589A>C

9 papers

NM_172245.4

p.G196R

c.586G>A

9 papers

NM_172245.4

p.G196R

c.586G>C