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

6 papers

NM_001288705.3

p.V613L

c.1837G>C

Surrounding Variants

6 papers

NM_001288705.3

p.V613L

c.1837G>T

2 papers

NM_001288705.3

p.V613M

c.1837G>A

1 paper

NM_001288705.3

p.V613G

c.1838T>G

1 paper

NM_001288705.3

p.K612T

c.1835A>C

1 paper

NM_001288705.3

p.A614V

c.1841C>T

1 paper

NM_001288705.3

p.L611V

c.1831C>G

1 paper

NM_001288705.3

p.K616M

c.1847A>T

1 paper

NM_001288705.3

p.K616R

c.1847A>G

1 paper

NM_001288705.3

p.D608A

c.1823A>C

1 paper

NM_001288705.3

p.E607D

c.1821G>T

1 paper

NM_001288705.3

p.E607D

c.1821G>C

2 papers

NM_001288705.3

p.L618del1

c.1852_1853delCAG