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

35 papers

NM_001288705.3

p.M875T

c.2624T>C

Surrounding Variants

2 papers

NM_001288705.3

p.M875R

c.2624T>G

9 papers

NM_001288705.3

p.M875I

c.2625G>T

9 papers

NM_001288705.3

p.M875I

c.2625G>C

10 papers

NM_001288705.3

p.M875I

c.2625G>A

2 papers

NM_001288705.3

p.M875L

c.2623A>T

2 papers

NM_001288705.3

p.M875L

c.2623A>C

2 papers

NM_001288705.3

p.A876fs

c.2626_2627fs

1 paper

NM_001288705.3

p.A876V

c.2627C>T

14 papers

NM_001288705.3

p.Q877*

c.2629C>T

1 paper

NM_001288705.3

p.Q877K

c.2629C>A

1 paper

NM_001288705.3

p.Q877R

c.2630A>G

2 papers

NM_001288705.3

p.A876_Q877Fs

c.2627_2631delinsTATFs