Varaico: Literature-Extracted Genetic Variants

Gene:CSF3R
Variant:p.Q739E

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.Q739E
c.2215C>G
Surrounding Variants
16 papers
NM_000760.4
p.Q739*
c.2215C>T
1 paper
NM_000760.4
p.Q739P
c.2216A>C
1 paper
NM_000760.4
p.T738I
c.2213C>T
1 paper
NM_000760.4
p.T738P
c.2212A>C
1 paper
NM_000760.4
p.S737delFs
c.2211delG
25 papers
NM_156039.3
p.Q768*
c.2302C>T
NM_000760.4
p.Q741*
c.2221C>T
1 paper
NM_000760.4
p.Q741fs
c.2221_2222fs
1 paper
NM_000760.4
p.S742A
c.2224T>G
1 paper
NM_000760.4
p.V736I
c.2206G>A
1 paper
NM_000760.4
p.A735G
c.2204C>G
10 papers
NM_000760.4
p.Q743*
c.2227C>T
NM_156039.3
p.Q770*
c.2308C>T
1 paper
NM_000760.4
p.R734fs
c.2200_2201fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."