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.A74A

c.222T>G

Surrounding Variants

1 paper

NM_001288705.3

p.A74V

c.221C>T

1 paper

NM_001288705.3

p.T75A

c.223A>G

1 paper

NM_001288705.3

p.A74T

c.220G>A

1 paper

NM_001288705.3

p.T75I

c.224C>T

1 paper

NM_001288705.3

p.N73D

c.217A>G

1 paper

NM_001288705.3

p.N72D

c.214A>G

1 paper

NM_001288705.3

p.T71_N72insFs

c.213_214insT

1 paper

NM_001288705.3

p.T71S

c.212C>G

1 paper

NM_001288705.3

p.T71N

c.212C>A

2 papers

NM_001288705.3

p.N78insFs

c.232_233insG

1 paper

NM_001288705.3

p.T71S

c.211A>T

1 paper

NM_001288705.3

p.N78S

c.233A>G