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

1–12 of 1285 variants

80 papers

NM_001288705.3

p.I794T

c.2381T>C

41 papers

NM_001288705.3

p.R782H

c.2345G>A

37 papers

NM_001288705.3

p.R777Q

c.2330G>A

36 papers

NM_001288705.3

p.E633K

c.1897G>A

35 papers

NM_001288705.3

p.M875T

c.2624T>C

34 papers

NM_001288705.3

p.A781V

c.2342C>T

31 papers

NM_001288705.3

p.G589R

c.1765G>A

30 papers

NM_001288705.3

p.H362R

c.1085A>G

30 papers

NM_001288705.3

p.G589R

c.1765G>C

28 papers

NM_001288705.3

p.V32G

c.95T>G

28 papers

NM_001288705.3

p.M766T

c.2297T>C

27 papers

NM_001288705.3

p.L301S

c.902T>C