Varaico: Literature-Extracted Genetic Variants

Gene:CSF3R
Variant:p.G689R

CSF3R

779 papers

RefSeq Summary

The protein encoded by this gene is the receptor for colony stimulating factor 3, a cytokine that controls the production, differentiation, and function of granulocytes. The encoded protein, which is ...

Pfam Domains

Lep_receptor_Igaa 24–117UCSCIg-like C2-type domain
fn3aa 526–615UCSCFibronectin type III domain

Gene Aliases

HGNC Name

colony stimulating factor 3 receptor

HGNC Previous Symbol

CD114

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000760.4
p.G689R
c.2065G>C
Surrounding Variants
1 paper
NM_000760.4
p.P691L
c.2072C>T
1 paper
NM_156039.3
p.A709_L712delFs
c.2125_2134del10
1 paper
NM_156039.3
p.I720delFs
c.2160delG
2 papers
NM_000760.4
p.F683L
c.2049C>G
2 papers
NM_000760.4
p.F683L
c.2049C>A
2 papers
NM_000760.4
p.F683L
c.2047T>C
1 paper
NM_000760.4
p.A682V
c.2045C>T
1 paper
NM_000760.4
p.L696I
c.2086C>A
7 papers
NM_000760.4
p.L696P
c.2087T>C
1 paper
NM_000760.4
p.D681H
c.2041G>C
1 paper
NM_000760.4
p.E680_D681Splc
c.2041-2A>G
1 paper
NM_000760.4
p.V698L
c.2092G>T
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