Varaico: Literature-Extracted Genetic Variants

Gene:CSF3R
Variant:p.Y727*

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.Y727*
c.2181T>G
Surrounding Variants
1 paper
NM_000760.4
p.Y727*
c.2181T>A
1 paper
NM_156039.3
p.Q752_Y754del0
c.2256_2261del6
1 paper
NM_000760.4
p.V728M
c.2182G>A
1 paper
NM_000760.4
p.Y727F
c.2180A>T
1 paper
NM_000760.4
p.L729fs
c.2185_2186fs
4 papers
NM_000760.4
p.Q730*
c.2188C>T
1 paper
NM_000760.4
p.Q725R
c.2174A>G
2 papers
NM_000760.4
p.Q725*
c.2173C>T
1 paper
NM_000760.4
p.G731E
c.2192G>A
1 paper
NM_000760.4
p.G731Fs
c.2191delinsGGGAGFs
1 paper
NM_000760.4
p.Q730_G731insFs
c.2190_2191insG
2 papers
NM_000760.4
p.P733S
c.2197C>T
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