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

6 papers

NM_172245.4

p.A17G

c.50C>G

Surrounding Variants

1 paper

NM_172245.4

p.A17T

c.49G>A

1 paper

NM_172245.4

p.H15Y

c.43C>T

3 papers

NM_172245.4

p.S25*

c.74C>A

1 paper

NM_172245.4

p.M1_L2insFs

c.3_4insA

1 paper

NM_172245.4

p.R28*

c.82C>T

1 paper

NM_172245.4

p.P32P

c.96A>G

1 paper

NM_172245.4

p.N37D

c.109A>G

1 paper

NM_172245.4

p.N37N

c.111T>C

1 paper

NM_172245.4

p.K59E

c.175A>G

1 paper

NM_172245.4

p.K65*

c.193A>T

1 paper

NM_172245.4

p.S75G

c.223A>G

1 paper

NM_172245.4

p.S80T

c.238T>A