Varaico: Literature-Extracted Genetic Variants

Gene:CSF3R

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
1–12 of 817 variants
240 papers
NM_000760.4
p.T618I
c.1853C>T
54 papers
NM_000760.4
p.T615A
c.1843A>G
49 papers
NM_000760.4
p.T640N
c.1919C>A
27 papers
NM_000760.4
p.Q749*
c.2245C>T
24 papers
NM_000760.4
p.Q741*
c.2221C>T
22 papers
NM_000760.4
p.W547*
c.1640G>A
22 papers
NM_000760.4
p.W547*
c.1641G>A
22 papers
NM_000760.4
p.E808K
c.2422G>A
18 papers
NM_000760.4
p.P733T
c.2197C>A
17 papers
NM_000760.4
p.S783fs
c.2347_2348fs
16 papers
NM_000760.4
p.Q739*
c.2215C>T
15 papers
NM_000760.4
p.W791*
c.2372G>A
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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."