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.Q346E

c.1036C>G

Surrounding Variants

1 paper

NM_001288705.3

p.Q346L

c.1037A>T

1 paper

NM_001288705.3

p.H345P

c.1034A>C

1 paper

NM_001288705.3

p.D344G

c.1031A>G

1 paper

NM_001288705.3

p.E348K

c.1042G>A

1 paper

NM_001288705.3

p.E348fs

c.1042_1043fs

1 paper

NM_001288705.3

p.E348V

c.1043A>T

2 papers

NM_001288705.3

p.F342L

c.1026T>G

2 papers

NM_001288705.3

p.F342L

c.1026T>A

1 paper

NM_001288705.3

p.P349L

c.1046C>T

2 papers

NM_001288705.3

p.F342L

c.1024T>C

2 papers

NM_001288705.3

p.K350fs

c.1048_1049fs

2 papers

NM_001288705.3

p.P349delFs

c.1047delG