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

7 papers

NM_001288705.3

p.A299T

c.895G>A

Surrounding Variants

1 paper

NM_001288705.3

p.A299S

c.895G>T

1 paper

NM_001288705.3

p.S298del1

c.892_894delACT

1 paper

NM_001288705.3

p.A299D

c.896C>A

1 paper

NM_001288705.3

p.A299fs

c.895_896fs

1 paper

NM_001288705.3

p.A299del1

c.895_897delGGC

1 paper

NM_001288705.3

p.E297E

c.891G>A

1 paper

NM_001288705.3

p.S298_A299delFs

c.894_897del4

1 paper

NM_001288705.3

p.Y300fs

c.898_899fs

1 paper

NM_001288705.3

p.E297Q

c.889G>C

1 paper

NM_001288705.3

p.E297Splc

c.890-1G>A

27 papers

NM_001288705.3

p.L301S

c.902T>C

9 papers

NM_001288705.3

p.L301*

c.902T>A