Varaico: Literature-Extracted Genetic Variants

Gene:INPP5J
Variant:p.Q633*

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.Q633*
c.1897C>T
Surrounding Variants
1 paper
NM_001284285.2
p.G602V
c.1805G>T
1 paper
NM_001284285.2
p.L644V
c.1930C>G
1 paper
NM_001284285.2
p.R702Q
c.2105G>A
NM_001284287.2
p.R267Q
c.800G>A
NM_001002837.3
p.R334Q
c.1001G>A
1 paper
NM_001284285.2
p.R530H
c.1589G>A
1 paper
NM_001284285.2
p.K514N
c.1542G>C
1 paper
NM_001284285.2
p.K514N
c.1542G>T
1 paper
NM_001002837.3
p.S132G
c.394A>G
1 paper
NM_001284285.2
p.S468insFs
c.1404dupC
1 paper
NM_001284285.2
p.D454N
c.1360G>A
1 paper
NM_001284285.2
p.G448A
c.1343G>C
1 paper
NM_001284285.2
p.T426N
c.1277C>A
1 paper
NM_001284285.2
p.G422C
c.1264G>T
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