Varaico: Literature-Extracted Genetic Variants

Gene:NPRL2
Variant:p.R204H

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
1 paper
NM_006545.5
p.R204H
c.611G>A
Surrounding Variants
1 paper
NM_006545.5
p.R204C
c.610C>T
1 paper
NM_006545.5
p.K208delFs
c.622delT
1 paper
NM_006545.5
p.P198H
c.593C>A
1 paper
NM_006545.5
p.Q195_I196Splc
c.586-1G>A
10 papers
NM_006545.5
p.D214H
c.640G>C
1 paper
NM_006545.5
p.V215delFs
c.644delA
1 paper
NM_006545.5
p.E216*
c.646G>T
1 paper
NM_006545.5
p.R221C
c.661C>T
1 paper
NM_006545.5
p.R221H
c.662G>A
3 papers
NM_006545.5
p.Q225*
c.673C>T
5 papers
NM_006545.5
p.L228Splc
c.683+1G>C
2 papers
NM_006545.5
p.Q195_I196Splc
c.585+1G>A
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