Varaico: Literature-Extracted Genetic Variants

Gene:INPP5J
Variant:p.T426N

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.T426N
c.1277C>A
Surrounding Variants
1 paper
NM_001284285.2
p.G448A
c.1343G>C
1 paper
NM_001284285.2
p.D454N
c.1360G>A
1 paper
NM_001284285.2
p.S468insFs
c.1404dupC
1 paper
NM_001284285.2
p.G422C
c.1264G>T
1 paper
NM_001284285.2
p.T399I
c.1196C>T
1 paper
NM_001002837.3
p.S132G
c.394A>G
1 paper
NM_001284285.2
p.S353R
c.1059C>A
1 paper
NM_001284285.2
p.K514N
c.1542G>C
1 paper
NM_001284285.2
p.K514N
c.1542G>T
1 paper
NM_001284285.2
p.R350H
c.1049G>A
1 paper
NM_001284285.2
p.R530H
c.1589G>A
1 paper
NM_001284285.2
p.G334D
c.1001G>A
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