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.L650P

c.1949T>C

Surrounding Variants

1 paper

NM_001288705.3

p.G651R

c.1951G>C

1 paper

NM_001288705.3

p.G651R

c.1951G>A

7 papers

NM_001288705.3

p.G651E

c.1952G>A

1 paper

NM_001288705.3

p.I646_N648del0

c.1936_1944del9

14 papers

NM_001288705.3

p.A652P

c.1954G>C

1 paper

NM_001288705.3

p.V647del1

c.1939_1940delGAC

16 papers

NM_001288705.3

p.C653R

c.1957T>C

1 paper

NM_001288705.3

p.C653F

c.1958G>T

17 papers

NM_001288705.3

p.C653Y

c.1958G>A

2 papers

NM_001288705.3

p.V647I

c.1939G>A

1 paper

NM_001288705.3

p.N645insFs

c.1934_1935insG

1 paper

NM_001288705.3

p.E644E

c.1932G>A