Varaico: Literature-Extracted Genetic Variants

Gene:CSF3R
Variant:p.P820fs

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.P820fs
c.2458_2459fs
Surrounding Variants
1 paper
NM_000760.4
p.P820H
c.2459C>A
2 papers
NM_000760.4
p.P820S
c.2458C>T
1 paper
NM_000760.4
p.F819L
c.2457C>G
4 papers
NM_000760.4
p.F819fs
c.2455_2456fs
1 paper
NM_000760.4
p.F819L
c.2457C>A
2 papers
NM_000760.4
p.F819L
c.2455T>C
1 paper
NM_000760.4
p.L822Q
c.2465T>A
1 paper
NM_000760.4
p.F819I
c.2455T>A
1 paper
NM_000760.4
p.Q823*
c.2467C>T
1 paper
NM_000760.4
p.Q823H
c.2469G>T
1 paper
NM_000760.4
p.Q823H
c.2469G>C
1 paper
NM_000760.4
p.G814insFs
c.2442dupG
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