Varaico: Literature-Extracted Genetic Variants

CSF1R

1,145 papers

RefSeq Summary

The protein encoded by this gene is the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if...

Pfam Domains

igaa 210–291UCSCImmunoglobulin domain

Ig_PDGFR_d4aa 410–537UCSCPlatelet-derived growth factor receptor Ig-like domain 4

PK_Tyr_Ser-Thraa 582–910UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

colony stimulating factor 1 receptor

HGNC Previous Symbol

FMS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001288705.3

p.P34L

c.101C>T

Surrounding Variants

1 paper

NM_001288705.3

p.P34S

c.100C>T

1 paper

NM_001288705.3

p.P34T

c.100C>A

1 paper

NM_001288705.3

p.K33N

c.99G>T

2 papers

NM_001288705.3

p.G35R

c.103G>C

1 paper

NM_001288705.3

p.K33N

c.99G>C

2 papers

NM_001288705.3

p.G35R

c.103G>A

1 paper

NM_001288705.3

p.G35A

c.104G>C

1 paper

NM_001288705.3

p.G35E

c.104G>A

1 paper

NM_001288705.3

p.K33E

c.97A>G

28 papers

NM_001288705.3

p.V32G

c.95T>G

3 papers

NM_001288705.3

p.V32A

c.95T>C

1 paper

NM_001288705.3

p.V32M

c.94G>A