Varaico: Literature-Extracted Genetic Variants

Gene:NPRL2
Variant:p.C378W

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
5 papers
NM_006545.5
p.C378W
c.1134C>G
Surrounding Variants
1 paper
NM_006545.5
p.C378Y
c.1133G>A
1 paper
NM_006545.5
p.K357delFs
c.1070delT
1 paper
NM_006545.5
p.T346I
c.1037C>T
1 paper
NM_006545.5
p.A342insFs
c.1025dupC
1 paper
NM_006545.5
p.R335W
c.1003C>T
2 papers
NM_006545.5
p.R325*
c.973C>T
2 papers
NM_006545.5
p.R324S
c.972G>T
2 papers
NM_006545.5
p.R324S
c.972G>C
1 paper
NM_006545.5
p.R324G
c.970A>G
4 papers
NM_006545.5
p.G317R
c.949G>C
4 papers
NM_006545.5
p.G317R
c.949G>A
4 papers
NM_006545.5
p.R311Splc
c.933-1G>A
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