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

2 papers

NM_001288705.3

p.G333D

c.998G>A

Surrounding Variants

1 paper

NM_001288705.3

p.Q332*

c.994C>T

1 paper

NM_001288705.3

p.N335Fs

c.1003delinsGAFs

1 paper

NM_001288705.3

p.N335K

c.1005C>G

1 paper

NM_001288705.3

p.N335K

c.1005C>A

1 paper

NM_001288705.3

p.G330V

c.989G>T

1 paper

NM_001288705.3

p.P329T

c.985C>A

1 paper

NM_001288705.3

p.Y328N

c.982T>A

1 paper

NM_001288705.3

p.A327D

c.980C>A

1 paper

NM_001288705.3

p.L339L

c.1017G>T

1 paper

NM_001288705.3

p.G340V

c.1019G>T

1 paper

NM_001288705.3

p.G340G

c.1020A>G

1 paper

NM_001288705.3

p.V325insFs

c.973dupG