Varaico: Literature-Extracted Genetic Variants

Gene:NPRL3
Variant:p.L242insFs

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.L242insFs
c.726dupG
Surrounding Variants
1 paper
NM_001077350.3
p.I243fs
c.727_728fs
1 paper
NM_001077350.3
p.P245S
c.733C>T
1 paper
NM_001077350.3
p.P245insFs
c.734dupC
1 paper
NM_001077350.3
p.S240A
c.718T>G
1 paper
NM_001077350.3
p.E246insFs
c.736_737ins4
1 paper
NM_001077350.3
p.E246fs
c.736_737fs
1 paper
NM_001077350.3
p.E246G
c.737A>G
2 papers
NM_001077350.3
p.E246fs
c.736_737fs
13 papers
NM_001077350.3
p.E249K
c.745G>A
1 paper
NM_001077350.3
p.I235M
c.705C>G
1 paper
NM_001077350.3
p.I255fs
c.763_764fs
1 paper
NM_001077350.3
p.I255delFs
c.763delT
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