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

1 paper

NM_172245.4

p.S80T

c.238T>A

Surrounding Variants

1 paper

NM_172245.4

p.S80L

c.239C>T

1 paper

NM_172245.4

p.R84C

c.250C>T

1 paper

NM_172245.4

p.S75G

c.223A>G

1 paper

NM_172245.4

p.H97R

c.290A>G

1 paper

NM_172245.4

p.V98M

c.292G>A

1 paper

NM_172245.4

p.L133F

c.399A>C

1 paper

NM_172245.4

p.L133F

c.399A>T

2 papers

NM_172245.4

p.P142L

c.425C>T

1 paper

NM_172245.4

p.T143M

c.428C>T

1 paper

NM_172245.4

p.R164Q

c.491G>A

1 paper

NM_172245.4

p.P166S

c.496C>T

1 paper

NM_172245.4

p.Y168N

c.502T>A