Varaico: Literature-Extracted Genetic Variants

Gene:NPRL3
Variant:p.S491L

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.S491L
c.1472C>T
Surrounding Variants
1 paper
NM_001077350.3
p.L490fs
c.1468_1469fs
1 paper
NM_001077350.3
p.L490insFs
c.1468_1469insC
1 paper
NM_001077350.3
p.S489_L490insFs
c.1467_1468insG
1 paper
NM_001077350.3
p.R495insFs
c.1483dupC
1 paper
NM_001077350.3
p.L499F
c.1495C>T
1 paper
NM_001077350.3
p.Q480delFs
c.1439delT
1 paper
NM_001243247.2
p.P424S
c.1270C>T
5 papers
NM_001077350.3
p.P502A
c.1504C>G
1 paper
NM_001077350.3
p.Q480fs
c.1438_1439fs
1 paper
NM_001077350.3
p.Q505fs
c.1513_1514fs
1 paper
NM_001077350.3
p.P477fs
c.1429_1430fs
1 paper
NM_001077350.3
p.P477delFs
c.1430delG
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