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.F768L

c.2304C>G

Surrounding Variants

1 paper

NM_001288705.3

p.F768L

c.2304C>A

1 paper

NM_001288705.3

p.L769F

c.2305C>T

1 paper

NM_001288705.3

p.F768L

c.2302T>C

1 paper

NM_001288705.3

p.L769_A770ins3

c.2307_2308ins9

19 papers

NM_001288705.3

p.A770P

c.2308G>C

3 papers

NM_001288705.3

p.A770T

c.2308G>A

1 paper

NM_001288705.3

p.A770_S771ins1

c.2310_2311insGGT

1 paper

NM_001288705.3

p.S771ins3

c.2311_2312ins9

28 papers

NM_001288705.3

p.M766T

c.2297T>C

13 papers

NM_001288705.3

p.M766V

c.2296A>G

18 papers

NM_001288705.3

p.G765D

c.2294G>A

2 papers

NM_001288705.3

p.G765C

c.2293G>T