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.R777G

c.2329C>G

Surrounding Variants

26 papers

NM_001288705.3

p.R777W

c.2329C>T

37 papers

NM_001288705.3

p.R777Q

c.2330G>A

1 paper

NM_001288705.3

p.H776Y

c.2326C>T

1 paper

NM_001288705.3

p.D778G

c.2333A>G

1 paper

NM_001288705.3

p.D778A

c.2333A>C

10 papers

NM_001288705.3

p.I775N

c.2324T>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

3 papers

NM_001288705.3

p.V779M

c.2335G>A

9 papers

NM_001288705.3

p.N773_C774Splc

c.2320-2A>G

34 papers

NM_001288705.3

p.A781V

c.2342C>T