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

16 papers

NM_001288705.3

p.R782G

c.2344C>G

Surrounding Variants

10 papers

NM_001288705.3

p.R782C

c.2344C>T

3 papers

NM_001288705.3

p.R782L

c.2345G>T

41 papers

NM_001288705.3

p.R782H

c.2345G>A

34 papers

NM_001288705.3

p.A781V

c.2342C>T

19 papers

NM_001288705.3

p.A781E

c.2342C>A

1 paper

NM_001288705.3

p.N783D

c.2347A>G

17 papers

NM_001288705.3

p.V784M

c.2350G>A

3 papers

NM_001288705.3

p.A781_V784del0

c.2342_2350del9

3 papers

NM_001288705.3

p.V779M

c.2335G>A

6 papers

NM_001288705.3

p.D778E

c.2334C>G

7 papers

NM_001288705.3

p.D778E

c.2334C>A

1 paper

NM_001288705.3

p.R777_D778delFs

c.2330_2333del4