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.L588I

c.1762C>A

Surrounding Variants

4 papers

NM_001288705.3

p.T587I

c.1760C>T

1 paper

NM_001288705.3

p.G589_A590ins8

c.1765_1769ins24

30 papers

NM_001288705.3

p.G589R

c.1765G>C

31 papers

NM_001288705.3

p.G589R

c.1765G>A

26 papers

NM_001288705.3

p.G589E

c.1766G>A

1 paper

NM_001288705.3

p.A590S

c.1768G>T

4 papers

NM_001288705.3

p.K586*

c.1756A>T

1 paper

NM_001288705.3

p.K586E

c.1756A>G

1 paper

NM_001288705.3

p.G585V

c.1754G>T

10 papers

NM_001288705.3

p.G585Splc

c.1754-1G>C

1 paper

NM_001288705.3

p.G591R

c.1771G>C

2 papers

NM_001288705.3

p.G591E

c.1772G>A