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.K883_N884del1

c.2649_2651delTTC

Surrounding Variants

1 paper

NM_001288705.3

p.N884K

c.2652T>G

3 papers

NM_001288705.3

p.I885Splc

c.2654+1G>A

1 paper

NM_001288705.3

p.K883R

c.2648A>G

1 paper

NM_001288705.3

p.P882fs

c.2644_2645fs

3 papers

NM_001288705.3

p.P882delFs

c.2645delG

1 paper

NM_001288705.3

p.P882fs

c.2644_2645fs

1 paper

NM_001288705.3

p.A881fs

c.2641_2642fs

2 papers

NM_001288705.3

p.A881V

c.2642C>T

1 paper

NM_001288705.3

p.A881delFs

c.2641delC

1 paper

NM_001288705.3

p.F880C

c.2639T>G

2 papers

NM_001288705.3

p.P878H

c.2633C>A

10 papers

NM_001288705.3

p.P878S

c.2632C>T