Varaico: Literature-Extracted Genetic Variants

Gene:NPRL3
Variant:p.H220R

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.H220R
c.659A>G
Surrounding Variants
1 paper
NM_001077350.3
p.L219fs
c.655_656fs
1 paper
NM_001077350.3
p.R218insFs
c.653_654ins4
1 paper
NM_001077350.3
p.V217I
c.649G>A
1 paper
NM_001077350.3
p.G215fs
c.643_644fs
1 paper
NM_001077350.3
p.G215delFs
c.644delC
2 papers
NM_001077350.3
p.S228insFs
c.682_683dupAG
1 paper
NM_001077350.3
p.S210Splc
c.630-1G>A
1 paper
NM_001077350.3
p.I235M
c.705C>G
1 paper
NM_001077350.3
p.S240A
c.718T>G
1 paper
NM_001077350.3
p.L242insFs
c.726dupG
1 paper
NM_001077350.3
p.I243fs
c.727_728fs
1 paper
NM_001077350.3
p.P245S
c.733C>T
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