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.N308D

c.922A>G

Surrounding Variants

2 papers

NM_001288705.3

p.Q307H

c.921G>C

1 paper

NM_001288705.3

p.N308K

c.924C>G

1 paper

NM_001288705.3

p.S304T

c.911G>C

1 paper

NM_001288705.3

p.E312K

c.934G>A

1 paper

NM_001288705.3

p.L303F

c.909G>T

1 paper

NM_001288705.3

p.L303F

c.909G>C

1 paper

NM_001288705.3

p.L303S

c.908T>C

2 papers

NM_001288705.3

p.I310_E312delFs

c.929_935del7

1 paper

NM_001288705.3

p.V313M

c.937G>A

1 paper

NM_001288705.3

p.E312del1

c.934_935delCTC

1 paper

NM_001288705.3

p.V313_T314ins1

c.939_940insAAG

1 paper

NM_001288705.3

p.N302H

c.904A>C