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.E598del1

c.1792_1793delCTC

Surrounding Variants

1 paper

NM_001288705.3

p.E598D

c.1794G>T

1 paper

NM_001288705.3

p.E598D

c.1794G>C

4 papers

NM_001288705.3

p.T600M

c.1799C>T

1 paper

NM_001288705.3

p.A601P

c.1801G>C

1 paper

NM_001288705.3

p.A601D

c.1802C>A

11 papers

NM_001288705.3

p.V596M

c.1786G>A

1 paper

NM_001288705.3

p.G594E

c.1781G>A

3 papers

NM_001288705.3

p.G594R

c.1780G>C

3 papers

NM_001288705.3

p.G594R

c.1780G>A

2 papers

NM_001288705.3

p.G591E

c.1772G>A

1 paper

NM_001288705.3

p.E607D

c.1821G>T

1 paper

NM_001288705.3

p.E607D

c.1821G>C