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.D754A

c.2261A>C

Surrounding Variants

1 paper

NM_001288705.3

p.G747_R753del0

c.2240_2257del18

5 papers

NM_001288705.3

p.L755P

c.2264T>C

1 paper

NM_001288705.3

p.L755Q

c.2264T>A

5 papers

NM_001288705.3

p.R753Q

c.2258G>A

1 paper

NM_001288705.3

p.R753W

c.2257C>T

1 paper

NM_001288705.3

p.G747_L752del0

c.2239_2256del18

1 paper

NM_001288705.3

p.L756fs

c.2266_2267fs

1 paper

NM_001288705.3

p.D746_L752del0

c.2238_2255del18

3 papers

NM_001288705.3

p.L756P

c.2267T>C

1 paper

NM_001288705.3

p.G747_L752del0

c.2240_2254del15

1 paper

NM_001288705.3

p.D746_L752del0

c.2237_2254del18

1 paper

NM_001288705.3

p.G747_E751del0

c.2239_2253del15