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

80 papers

NM_001288705.3

p.I794T

c.2381T>C

Surrounding Variants

4 papers

NM_001288705.3

p.I794F

c.2380A>T

1 paper

NM_001288705.3

p.K793N

c.2379G>T

1 paper

NM_001288705.3

p.K793N

c.2379G>C

1 paper

NM_001288705.3

p.G795V

c.2384G>T

5 papers

NM_001288705.3

p.G795A

c.2384G>C

21 papers

NM_001288705.3

p.K793T

c.2378A>C

3 papers

NM_001288705.3

p.K793E

c.2377A>G

17 papers

NM_001288705.3

p.A792D

c.2375C>A

1 paper

NM_001288705.3

p.A792P

c.2374G>C

1 paper

NM_001288705.3

p.F797L

c.2389T>C

1 paper

NM_001288705.3

p.F797I

c.2389T>A

2 papers

NM_001288705.3

p.F797C

c.2390T>G