Varaico: Literature-Extracted Genetic Variants

Gene:CSF3R
Variant:p.C770Y

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
2 papers
NM_000760.4
p.C770Y
c.2309G>A
Surrounding Variants
1 paper
NM_000760.4
p.C770*
c.2310T>A
3 papers
NM_000760.4
p.R769H
c.2306G>A
2 papers
NM_000760.4
p.R769C
c.2305C>T
8 papers
NM_000760.4
p.D771fs
c.2311_2312fs
3 papers
NM_000760.4
p.S772A
c.2314T>G
1 paper
NM_000760.4
p.S772T
c.2314T>A
6 papers
NM_000760.4
p.L768F
c.2302C>T
2 papers
NM_000760.4
p.Y767fs
c.2299_2300fs
1 paper
NM_000760.4
p.T773I
c.2318C>T
1 paper
NM_000760.4
p.Y767F
c.2300A>T
1 paper
NM_000760.4
p.T773fs
c.2317_2318fs
2 papers
NM_000760.4
p.Q774*
c.2320C>T
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