Varaico: Literature-Extracted Genetic Variants

Gene:INPP5J
Variant:p.S290R

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
2 papers
NM_001284285.2
p.S290R
c.868A>C
Surrounding Variants
2 papers
NM_001284285.2
p.S290R
c.870C>A
2 papers
NM_001284285.2
p.S290R
c.870C>G
1 paper
NM_001284285.2
p.V296I
c.886G>A
1 paper
NM_001284285.2
p.R282*
c.844C>T
1 paper
NM_001284285.2
p.P301S
c.901C>T
1 paper
NM_001284285.2
p.S278P
c.832T>C
1 paper
NM_001284285.2
p.R276Q
c.827G>A
1 paper
NM_001284285.2
p.P266S
c.796C>T
1 paper
NM_001284285.2
p.Q258*
c.772C>T
2 papers
NM_001284285.2
p.R328Q
c.983G>A
1 paper
NM_001284285.2
p.P329insFs
c.985_986ins23
1 paper
NM_001284285.2
p.P329fs
c.985_986fs
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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."