Varaico: Literature-Extracted Genetic Variants

Gene:CSF3R
Variant:p.G719D

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.G719D
c.2156G>A
Surrounding Variants
1 paper
NM_000760.4
p.C718*
c.2154T>A
1 paper
NM_156039.3
p.P748S
c.2242C>T
1 paper
NM_000760.4
p.P721L
c.2162C>T
1 paper
NM_000760.4
p.T717I
c.2150C>T
1 paper
NM_000760.4
p.L720delFs
c.2160delG
1 paper
NM_000760.4
p.E716*
c.2146G>T
1 paper
NM_000760.4
p.S715fs
c.2143_2144fs
1 paper
NM_000760.4
p.S715L
c.2144C>T
3 papers
NM_000760.4
p.S715*
c.2144C>G
3 papers
NM_000760.4
p.S715*
c.2144C>A
2 papers
NM_000760.4
p.Q725*
c.2173C>T
1 paper
NM_000760.4
p.Q725R
c.2174A>G
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