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

5 papers

NM_172245.4

p.R199*

c.595C>T

Surrounding Variants

1 paper

NM_172245.4

p.E200_Q204del5

c.598_611del15

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

1 paper

NM_172245.4

p.L193V

c.577C>G

1 paper

NM_172245.4

p.Y191D

c.571T>G

1 paper

NM_172245.4

p.R189C

c.565C>T

1 paper

NM_172245.4

p.K214R

c.641A>G

2 papers

NM_172245.4

p.C178Y

c.533G>A

2 papers

NM_172245.4

p.Q170*

c.508C>T

1 paper

NM_172245.4

p.Y168N

c.502T>A

1 paper

NM_172245.4

p.P166S

c.496C>T