Varaico: Literature-Extracted Genetic Variants

Gene:NPRL3
Variant:p.S279fs

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
7 papers
NM_001077350.3
p.S279fs
c.835_836fs
Surrounding Variants
5 papers
NM_001077350.3
p.S279F
c.836C>T
8 papers
NM_001077350.3
p.S279insFs
c.835_836insT
1 paper
NM_001077350.3
p.S279fs
c.835_836fs
1 paper
NM_001077350.3
p.V292M
c.874G>A
1 paper
NM_001077350.3
p.S265N
c.794G>A
1 paper
NM_001077350.3
p.L295L
c.883C>T
1 paper
NM_001077350.3
p.A260S
c.778G>T
2 papers
NM_001077350.3
p.L298V
c.892C>G
2 papers
NM_001077350.3
p.Q300*
c.898C>T
1 paper
NM_001077350.3
p.Q300del1
c.898_900delTTG
1 paper
NM_001077350.3
p.R256P
c.767G>C
5 papers
NM_001077350.3
p.A302V
c.905C>T
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