Varaico: Literature-Extracted Genetic Variants

Gene:NPRL3
Variant:p.Q82*

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.Q82*
c.244C>T
Surrounding Variants
2 papers
NM_001077350.3
p.F84C
c.251T>G
1 paper
NM_001077350.3
p.F84S
c.251T>C
1 paper
NM_001077350.3
p.L86delFs
c.258delC
1 paper
NM_001077350.3
p.K87fs
c.259_260fs
4 papers
NM_001077350.3
p.R92*
c.274C>T
15 papers
NM_001077350.3
p.R92Q
c.275G>A
1 paper
NM_001077350.3
p.F93delFs
c.279delA
1 paper
NM_001077350.3
p.S65*
c.194C>G
5 papers
NM_001077350.3
p.R63Splc
c.189-1G>A
5 papers
NM_001077350.3
p.Q101*
c.301C>T
1 paper
NM_001077350.3
p.R63Splc
c.189-2A>T
1 paper
NM_001077350.3
p.L104P
c.311T>C
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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."