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.L303F

c.909G>T

Surrounding Variants

1 paper

NM_001288705.3

p.L303F

c.909G>C

1 paper

NM_001288705.3

p.L303S

c.908T>C

1 paper

NM_001288705.3

p.S304T

c.911G>C

1 paper

NM_001288705.3

p.N302H

c.904A>C

11 papers

NM_001288705.3

p.L301F

c.903G>T

11 papers

NM_001288705.3

p.L301F

c.903G>C

27 papers

NM_001288705.3

p.L301S

c.902T>C

9 papers

NM_001288705.3

p.L301*

c.902T>A

1 paper

NM_001288705.3

p.Y300fs

c.898_899fs

1 paper

NM_001288705.3

p.S298_A299delFs

c.894_897del4

1 paper

NM_001288705.3

p.A299del1

c.895_897delGGC

2 papers

NM_001288705.3

p.Q307H

c.921G>C