Varaico: Literature-Extracted Genetic Variants

Gene:CSF3R
Variant:p.L751F

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.L751F
c.2251C>T
Surrounding Variants
1 paper
NM_000760.4
p.L751P
c.2252T>C
1 paper
NM_000760.4
p.V750A
c.2249T>C
1 paper
NM_000760.4
p.Y752H
c.2254T>C
1 paper
NM_000760.4
p.Y752fs
c.2254_2255fs
14 papers
NM_000760.4
p.Y752*
c.2256T>G
13 papers
NM_000760.4
p.Y752*
c.2256T>A
30 papers
NM_000760.4
p.Q749*
c.2245C>T
NM_156039.3
p.Q776*
c.2326C>T
1 paper
NM_000760.4
p.T746_D748del3
c.2236_2243del9
1 paper
NM_000760.4
p.D748fs
c.2242_2243fs
6 papers
NM_000760.4
p.Q754*
c.2260C>T
2 papers
NM_000760.4
p.Q754K
c.2260C>A
1 paper
NM_000760.4
p.S747N
c.2240G>A
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