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.A96T

c.286G>A

Surrounding Variants

1 paper

NM_001288705.3

p.A96fs

c.286_287fs

1 paper

NM_001288705.3

p.A95T

c.283G>A

1 paper

NM_001288705.3

p.I97S

c.290T>G

1 paper

NM_001288705.3

p.I97N

c.290T>A

3 papers

NM_001288705.3

p.S94S

c.282C>T

1 paper

NM_001288705.3

p.S94R

c.282C>G

1 paper

NM_001288705.3

p.S94R

c.282C>A

1 paper

NM_001288705.3

p.S94R

c.280A>C

1 paper

NM_001288705.3

p.G93D

c.278G>A

4 papers

NM_001288705.3

p.H98H

c.294C>T

1 paper

NM_001288705.3

p.L99I

c.295C>A

1 paper

NM_001288705.3

p.G92V

c.275G>T