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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BPNT2

Variant:p.I296I

BPNT2

32 papers

RefSeq Summary

This gene encodes a member of the inositol monophosphatase family. The encoded protein is localized to the Golgi apparatus and catalyzes the hydrolysis of phosphoadenosine phosphate (PAP) to adenosine...

Pfam Domains

Inositol_Paa 62–355UCSCInositol monophosphatase family

Gene Aliases

HGNC Name

3'(2'), 5'-bisphosphate nucleotidase 2

HGNC Previous Symbol

IMPAD1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr8:56963985 G>A

NM_017813.5

p.I296I

c.888C>T

Inositol_P

exact variant not in gnomAD23 overlapping SVs

Surrounding Variants

1 paper

chr8:56963987 T>A

NM_017813.5

p.I296F

c.886A>T

Inositol_P

exact variant not in gnomAD23 overlapping SVs

2 papers

chr8:56963979 C>CT

NM_017813.5

p.K298insFs

c.893dupA

Inositol_P

exact variant not in gnomAD23 overlapping SVs

1 paper

chr8:56963963 C>A

NM_017813.5

p.G304C

c.910G>T

Inositol_P

exact variant not in gnomAD23 overlapping SVs

1 paper

chr8:56964017 T>C

NM_017813.5

p.K286E

c.856A>G

Inositol_P

Exome: 1.3% (AC=18687, hom=159)Genome: 0.9% (AC=1389, hom=4)23 overlapping SVs

1 paper

chr8:56963816 G>C

NM_017813.5

p.L353V

c.1057C>G

Inositol_P

exact variant not in gnomAD23 overlapping SVs

1 paper

chr8:56966242 C>T

NM_017813.5

p.A253T

c.757G>A

Inositol_P

Exome: 0.0% (AC=14, hom=0)Genome: 0.0% (AC=2, hom=0)22 overlapping SVs

2 papers

chr8:56966299 C>A

NM_017813.5

p.E234*

c.700G>T

Inositol_P

exact variant not in gnomAD22 overlapping SVs

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