Varaico: Literature-Extracted Genetic Variants

Gene:NPRL2
Variant:p.Q188*

NPRL2

94 papers

Pfam Domains

NPR2aa 5–278UCSCNitrogen permease regulator 2
NPR2aa 273–373UCSCNitrogen permease regulator 2

Gene Aliases

HGNC Name

NPR2 like, GATOR1 complex subunit

HGNC Previous Symbol

TUSC4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_006545.5
p.Q188*
c.562C>T
Surrounding Variants
2 papers
NM_006545.5
p.Q195_I196Splc
c.585+1G>A
1 paper
NM_006545.5
p.V174A
c.521T>C
1 paper
NM_006545.5
p.Y172Fs
c.515_516delinsTFs
1 paper
NM_006545.5
p.E171*
c.511G>T
1 paper
NM_006545.5
p.P167_V168del2
c.499_503del6
1 paper
NM_006545.5
p.V168M
c.502G>A
1 paper
NM_006545.5
p.N153S
c.458A>G
1 paper
NM_006545.5
p.E151K
c.451G>A
1 paper
NM_006545.5
p.Q195_I196Splc
c.586-1G>A
1 paper
NM_006545.5
p.P198H
c.593C>A
1 paper
NM_006545.5
p.R204C
c.610C>T
1 paper
NM_006545.5
p.R204H
c.611G>A
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