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.E24D

c.72G>T

Surrounding Variants

1 paper

NM_001288705.3

p.E24D

c.72G>C

1 paper

NM_001288705.3

p.P25T

c.73C>A

1 paper

NM_001288705.3

p.I23Fs

c.68delinsTTFs

1 paper

NM_001288705.3

p.I23T

c.68T>C

1 paper

NM_001288705.3

p.P25insFs

c.74dupC

1 paper

NM_001288705.3

p.S26I

c.77G>T

1 paper

NM_001288705.3

p.V22M

c.64G>A

1 paper

NM_001288705.3

p.P21Q

c.62C>A

4 papers

NM_001288705.3

p.P21S

c.61C>T

1 paper

NM_001288705.3

p.P21T

c.61C>A

9 papers

NM_001288705.3

p.P28P

c.84T>C

1 paper

NM_001288705.3

p.I20_P21insFs

c.60_61insT