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

4 papers

NM_001288705.3

p.H362Y

c.1084C>T

Surrounding Variants

30 papers

NM_001288705.3

p.H362R

c.1085A>G

2 papers

NM_001288705.3

p.R361M

c.1082G>T

1 paper

NM_001288705.3

p.R361Splc

c.1083-1G>A

2 papers

NM_001288705.3

p.T363N

c.1088C>A

1 paper

NM_001288705.3

p.T365I

c.1094C>T

1 paper

NM_001288705.3

p.L368fs

c.1102_1103fs

1 paper

NM_001288705.3

p.L368V

c.1102C>G

1 paper

NM_001288705.3

p.L368Q

c.1103T>A

1 paper

NM_001288705.3

p.P369S

c.1105C>T

1 paper

NM_001288705.3

p.R370C

c.1108C>T

1 paper

NM_001288705.3

p.R370H

c.1109G>A

1 paper

NM_001288705.3

p.K372M

c.1115A>T