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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:INPP5A

Variant:p.K73Q

INPP5A

40 papers

RefSeq Summary

The protein encoded by this gene is a membrane-associated type I inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium ...

Gene Aliases

HGNC Name

inositol polyphosphate-5-phosphatase A

HGNC Alias Symbol

5PTASE

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr10:132645967 A>C

NM_005539.5

p.K73Q

c.217A>C

exact variant not in gnomAD4 overlapping SVs

Surrounding Variants

1 paper

chr10:132645884 A>G

NM_005539.5

p.K45R

c.134A>G

Exome: 21.4% (AC=312926, hom=35035)Genome: 18.4% (AC=27976, hom=2828)4 overlapping SVs

1 paper

chr10:132650429 C>A

NM_005539.5

p.S77*

c.230C>A

exact variant not in gnomAD4 overlapping SVs

4 papers

chr10:132650438 C>T

NM_005539.5

p.A80V

c.239C>T

Exome: 0.0% (AC=15, hom=0)Genome: 0.0% (AC=2, hom=0)4 overlapping SVs

1 paper

chr10:132650485 A>G

NM_005539.5

p.K96E

c.286A>G

exact variant not in gnomAD4 overlapping SVs

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