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.L756fs

c.2266_2267fs

Surrounding Variants

3 papers

NM_001288705.3

p.L756P

c.2267T>C

5 papers

NM_001288705.3

p.L755P

c.2264T>C

1 paper

NM_001288705.3

p.L755Q

c.2264T>A

1 paper

NM_001288705.3

p.D754A

c.2261A>C

6 papers

NM_001288705.3

p.F758S

c.2273T>C

1 paper

NM_001288705.3

p.G747_R753del0

c.2240_2257del18

5 papers

NM_001288705.3

p.R753Q

c.2258G>A

1 paper

NM_001288705.3

p.F758F

c.2274C>T

2 papers

NM_001288705.3

p.S759P

c.2275T>C

1 paper

NM_001288705.3

p.R753W

c.2257C>T

1 paper

NM_001288705.3

p.G747_L752del0

c.2239_2256del18

15 papers

NM_001288705.3

p.S759F

c.2276C>T