Varaico: Literature-Extracted Genetic Variants

Gene:NPRL3
Variant:p.S460fs

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
13 papers
NM_001077350.3
p.S460fs
c.1378_1379fs
Surrounding Variants
11 papers
NM_001077350.3
p.T459insFs
c.1375_1376dupAC
4 papers
NM_001077350.3
p.T459insFs
c.1376_1377insAC
1 paper
NM_001077350.3
p.S460fs
c.1378_1379fs
1 paper
NM_001077350.3
p.T459fs
c.1375_1376fs
1 paper
NM_001077350.3
p.L458fs
c.1372_1373fs
1 paper
NM_001077350.3
p.L458delFs
c.1372delG
1 paper
NM_001243247.2
p.P383insFs
c.1149dupC
1 paper
NM_001077350.3
p.T451_S452delFs
c.1353_1356del4
1 paper
NM_001077350.3
p.A468T
c.1402G>A
1 paper
NM_001077350.3
p.S452fs
c.1354_1355fs
1 paper
NM_001077350.3
p.T451fs
c.1351_1352fs
1 paper
NM_001077350.3
p.G474R
c.1420G>C
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