Varaico: Literature-Extracted Genetic Variants

Gene:INPP5J
Variant:p.T399I

INPP5J

63 papers

Pfam Domains

Exo_endo_phos2aa 1–92UCSCEndonuclease/Exonuclease/phosphatase family 2
SKICHaa 741–839UCSCSKICH domain

Gene Aliases

HGNC Name

inositol polyphosphate-5-phosphatase J

HGNC Previous Symbol

PIB5PA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001284285.2
p.T399I
c.1196C>T
Surrounding Variants
1 paper
NM_001284285.2
p.G422C
c.1264G>T
1 paper
NM_001284285.2
p.S353R
c.1059C>A
1 paper
NM_001284285.2
p.R350H
c.1049G>A
1 paper
NM_001284285.2
p.G334D
c.1001G>A
1 paper
NM_001284285.2
p.P329insFs
c.985_986ins23
1 paper
NM_001284285.2
p.P329fs
c.985_986fs
2 papers
NM_001284285.2
p.R328Q
c.983G>A
1 paper
NM_001284285.2
p.P301S
c.901C>T
1 paper
NM_001284285.2
p.V296I
c.886G>A
2 papers
NM_001284285.2
p.S290R
c.870C>A
2 papers
NM_001284285.2
p.S290R
c.870C>G
2 papers
NM_001284285.2
p.S290R
c.868A>C
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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."