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.G64V

c.191G>T

Surrounding Variants

1 paper

NM_001288705.3

p.G64A

c.191G>C

1 paper

NM_001288705.3

p.G64D

c.191G>A

1 paper

NM_001288705.3

p.D63H

c.187G>C

1 paper

NM_001288705.3

p.S66fs

c.196_197fs

4 papers

NM_001288705.3

p.S66G

c.196A>G

1 paper

NM_001288705.3

p.Y61C

c.182A>G

2 papers

NM_001288705.3

p.Y61H

c.181T>C

1 paper

NM_001288705.3

p.L60P

c.179T>C

1 paper

NM_001288705.3

p.L60_Y61insT

c.178_182ins3

1 paper

NM_001288705.3

p.T59S

c.176C>G

1 paper

NM_001288705.3

p.T59A

c.175A>G

1 paper

NM_001288705.3

p.S70N

c.209G>A