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.T393delFs

c.1177delT

Surrounding Variants

1 paper

NM_001288705.3

p.L396F

c.1186C>T

1 paper

NM_001288705.3

p.L396I

c.1186C>A

1 paper

NM_001288705.3

p.L396fs

c.1186_1187fs

1 paper

NM_001288705.3

p.T397S

c.1189A>T

1 paper

NM_001288705.3

p.T397S

c.1190C>G

1 paper

NM_001288705.3

p.F394_T397delFs

c.1180_1190del11

1 paper

NM_001288705.3

p.G388S

c.1162G>A

1 paper

NM_001288705.3

p.R399*

c.1195C>T

1 paper

NM_001288705.3

p.R399P

c.1196G>C

1 paper

NM_001288705.3

p.R399Q

c.1196G>A

1 paper

NM_001288705.3

p.G387R

c.1159G>C

1 paper

NM_001288705.3

p.G387R

c.1159G>A