Varaico: Literature-Extracted Genetic Variants

Gene:NPRL3
Variant:p.F124L

NPRL3

168 papers

Pfam Domains

NPR3aa 63–116UCSCNitrogen Permease regulator of amino acid transport activity 3
NPR3aa 106–393UCSCNitrogen Permease regulator of amino acid transport activity 3
HTH_NPRL3aa 466–527UCSCGATOR1 complex protein NPRL3, C-terminal HTH

Gene Aliases

HGNC Name

NPR3 like, GATOR1 complex subunit

HGNC Previous Symbol

C16orf35

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001077350.3
p.F124L
c.370T>C
Surrounding Variants
1 paper
NM_001077350.3
p.F124L
c.372T>G
1 paper
NM_001077350.3
p.F124L
c.372T>A
1 paper
NM_001077350.3
p.V126fs
c.376_377fs
1 paper
NM_001077350.3
p.V126delFs
c.377delA
1 paper
NM_001077350.3
p.E117fs
c.349_350fs
10 papers
NM_001077350.3
p.E117delFs
c.349delC
9 papers
NM_001077350.3
p.E117fs
c.349_350fs
1 paper
NM_001077350.3
p.R116M
c.347G>T
1 paper
NM_001077350.3
p.R131_A132Splc
c.393+3G>T
1 paper
NM_001077350.3
p.P114fs
c.340_341fs
1 paper
NM_001077350.3
p.P114delFs
c.341delG
1 paper
NM_001077350.3
p.S113F
c.338C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."