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.A629T

c.1885G>A

Surrounding Variants

5 papers

NM_001288705.3

p.A629S

c.1885G>T

1 paper

NM_001288705.3

p.E628K

c.1882G>A

9 papers

NM_001288705.3

p.K627del1

c.1879_1880delCTT

1 paper

NM_001288705.3

p.L630F

c.1888C>T

17 papers

NM_001288705.3

p.L630R

c.1889T>G

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

36 papers

NM_001288705.3

p.E633K

c.1897G>A

9 papers

NM_001288705.3

p.L634R

c.1901T>G

1 paper

NM_001288705.3

p.H623Y

c.1867C>T

2 papers

NM_001288705.3

p.K635N

c.1905G>T