Varaico: Literature-Extracted Genetic Variants

Gene:CSF3R
Variant:p.H739Y

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_156039.3
p.H739Y
c.2215C>T
Surrounding Variants
1 paper
NM_000760.4
p.H712insFs
c.2134_2135insTT
1 paper
NM_000760.4
p.W709_H712delFs
c.2125_2134del10
1 paper
NM_000760.4
p.N713_S714ins7
c.2137_2141ins21
1 paper
NM_000760.4
p.E710insFs
c.2128dupG
1 paper
NM_000760.4
p.E710delFs
c.2128delC
1 paper
NM_000760.4
p.W709fs
c.2125_2126fs
1 paper
NM_000760.4
p.S715L
c.2144C>T
3 papers
NM_000760.4
p.S715*
c.2144C>G
3 papers
NM_000760.4
p.S715*
c.2144C>A
1 paper
NM_000760.4
p.P708R
c.2123C>G
1 paper
NM_000760.4
p.S715fs
c.2143_2144fs
1 paper
NM_000760.4
p.E716*
c.2146G>T
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