Varaico: Literature-Extracted Genetic Variants

Gene:CSF3R
Variant:p.P592S

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.P592S
c.1774C>T
Surrounding Variants
1 paper
NM_000760.4
p.E591insFs
c.1772dupA
2 papers
NM_000760.4
p.E591K
c.1771G>A
2 papers
NM_000760.4
p.G589S
c.1765G>A
1 paper
NM_000760.4
p.Y596fs
c.1786_1787fs
1 paper
NM_000760.4
p.Y596C
c.1787A>G
1 paper
NM_000760.4
p.L595_Y596delFs
c.1785_1786delAC
1 paper
NM_000760.4
p.V586fs
c.1756_1757fs
1 paper
NM_000760.4
p.V586insFs
c.1756dupG
1 paper
NM_000760.4
p.R583_V586del0
c.1748_1756del9
1 paper
NM_000760.4
p.H599N
c.1795C>A
1 paper
NM_000760.4
p.S582_I598ins5
c.1746_1793dup48
5 papers
NM_000760.4
p.R583H
c.1748G>A
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