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.R378C

c.1132C>T

Surrounding Variants

1 paper

NM_001288705.3

p.G377G

c.1131C>T

1 paper

NM_001288705.3

p.G377A

c.1130G>C

2 papers

NM_001288705.3

p.F381L

c.1141T>C

2 papers

NM_001288705.3

p.F381L

c.1143C>G

2 papers

NM_001288705.3

p.F381L

c.1143C>A

1 paper

NM_001288705.3

p.S374P

c.1120T>C

1 paper

NM_001288705.3

p.L382insFs

c.1145_1146insA

1 paper

NM_001288705.3

p.K372M

c.1115A>T

1 paper

NM_001288705.3

p.R370H

c.1109G>A

1 paper

NM_001288705.3

p.N385K

c.1155C>G

1 paper

NM_001288705.3

p.N385K

c.1155C>A

1 paper

NM_001288705.3

p.R370C

c.1108C>T