Varaico: Literature-Extracted Genetic Variants

Gene:CSF3R
Variant:p.I629L

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.I629L
c.1885A>C
Surrounding Variants
1 paper
NM_000760.4
p.H627Y
c.1879C>T
1 paper
NM_000760.4
p.G631V
c.1892G>T
1 paper
NM_000760.4
p.E625ins13
c.1873_1874ins39
1 paper
NM_000760.4
p.S624L
c.1871C>T
2 papers
NM_000760.4
p.G634V
c.1901G>T
1 paper
NM_000760.4
p.E622D
c.1866G>T
1 paper
NM_000760.4
p.E622D
c.1866G>C
1 paper
NM_000760.4
p.E622Splc
c.1865-2A>G
1 paper
NM_000760.4
p.L630_L637delFs
c.1888_1910del23
2 papers
NM_000760.4
p.T640A
c.1918A>G
6 papers
NM_000760.4
p.T640I
c.1919C>T
49 papers
NM_000760.4
p.T640N
c.1919C>A
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