Varaico: Literature-Extracted Genetic Variants

Gene:INPP5J

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
1–12 of 67 variants
2 papers
NM_001284285.2
p.S290R
c.868A>C
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.R328Q
c.983G>A
1 paper
NM_001284285.2
p.M1I
c.3G>T
1 paper
NM_001284285.2
p.R7K
c.20G>A
1 paper
NM_001284285.2
p.S20S
c.60C>T
1 paper
NM_001284285.2
p.L42F
c.124C>T
1 paper
NM_001284285.2
p.P55L
c.164C>T
1 paper
NM_001284285.2
p.P61A
c.181C>G
1 paper
NM_001284285.2
p.P61S
c.181C>T
1 paper
NM_001284285.2
p.P61L
c.182C>T
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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."