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

3 papers

NM_001288705.3

p.Y82F

c.245A>T

Surrounding Variants

1 paper

NM_001288705.3

p.G80_T81delFs

c.240_243del4

1 paper

NM_001288705.3

p.R83C

c.247C>T

2 papers

NM_001288705.3

p.R83H

c.248G>A

2 papers

NM_001288705.3

p.T81S

c.242C>G

1 paper

NM_001288705.3

p.T79T

c.237G>A

6 papers

NM_001288705.3

p.T79M

c.236C>T

1 paper

NM_001288705.3

p.T79R

c.236C>G

1 paper

NM_001288705.3

p.T79S

c.235A>T

1 paper

NM_001288705.3

p.T79A

c.235A>G

1 paper

NM_001288705.3

p.T79P

c.235A>C

1 paper

NM_001288705.3

p.E86Q

c.256G>C

1 paper

NM_001288705.3

p.N78K

c.234C>A