Varaico: Literature-Extracted Genetic Variants

Gene:NPRL3
Variant:p.R300del1

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_001243247.2
p.R300del1
c.898_900delCCT
Surrounding Variants
1 paper
NM_001077350.3
p.N379insFs
c.1137dupT
1 paper
NM_001077350.3
p.E376delFs
c.1128delT
1 paper
NM_001077350.3
p.E376fs
c.1126_1127fs
2 papers
NM_001077350.3
p.P383insFs
c.1149dupC
5 papers
NM_001077350.3
p.A384fs
c.1150_1151fs
1 paper
NM_001077350.3
p.V385A
c.1154T>C
1 paper
NM_001077350.3
p.Q386*
c.1156C>T
1 paper
NM_001077350.3
p.P357fs
c.1069_1070fs
9 papers
NM_001077350.3
p.P357delFs
c.1070delG
9 papers
NM_001077350.3
p.P357fs
c.1069_1070fs
5 papers
NM_001077350.3
p.Q355*
c.1063C>T
1 paper
NM_001077350.3
p.S353C
c.1058C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."