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

8 papers

NM_001288705.3

p.I636N

c.1907T>A

Surrounding Variants

2 papers

NM_001288705.3

p.K635N

c.1905G>T

2 papers

NM_001288705.3

p.K635N

c.1905G>C

9 papers

NM_001288705.3

p.L634R

c.1901T>G

1 paper

NM_001288705.3

p.S638N

c.1913G>A

1 paper

NM_001288705.3

p.H639R

c.1916A>G

36 papers

NM_001288705.3

p.E633K

c.1897G>A

1 paper

NM_001288705.3

p.M631I

c.1893G>T

1 paper

NM_001288705.3

p.M631I

c.1893G>C

1 paper

NM_001288705.3

p.M631I

c.1893G>A

6 papers

NM_001288705.3

p.Q642*

c.1924C>T

1 paper

NM_001288705.3

p.Q642E

c.1924C>G

17 papers

NM_001288705.3

p.L630R

c.1889T>G