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.R361M

c.1082G>T

Surrounding Variants

1 paper

NM_001288705.3

p.R361K

c.1082G>A

1 paper

NM_001288705.3

p.Y360C

c.1079A>G

1 paper

NM_001288705.3

p.Y360H

c.1078T>C

1 paper

NM_001288705.3

p.T359S

c.1075A>T

1 paper

NM_001288705.3

p.T355del1

c.1063_1064delGGT

1 paper

NM_001288705.3

p.A354P

c.1060G>C

1 paper

NM_001288705.3

p.K350N

c.1050G>T

1 paper

NM_001288705.3

p.K350N

c.1050G>C

2 papers

NM_001288705.3

p.K350fs

c.1048_1049fs

2 papers

NM_001288705.3

p.P349delFs

c.1047delG

1 paper

NM_001288705.3

p.P349L

c.1046C>T

1 paper

NM_001288705.3

p.E348V

c.1043A>T