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.Q642E

c.1924C>G

Surrounding Variants

6 papers

NM_001288705.3

p.Q642*

c.1924C>T

1 paper

NM_001288705.3

p.H643P

c.1928A>C

9 papers

NM_001288705.3

p.H643Q

c.1929C>G

10 papers

NM_001288705.3

p.H643Q

c.1929C>A

1 paper

NM_001288705.3

p.E644K

c.1930G>A

1 paper

NM_001288705.3

p.E644E

c.1932G>A

1 paper

NM_001288705.3

p.H639R

c.1916A>G

1 paper

NM_001288705.3

p.N645insFs

c.1934_1935insG

1 paper

NM_001288705.3

p.S638N

c.1913G>A

2 papers

NM_001288705.3

p.V647I

c.1939G>A

8 papers

NM_001288705.3

p.I636N

c.1907T>A

1 paper

NM_001288705.3

p.V647del1

c.1939_1940delGAC