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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IPPK

Variant:p.Q420E

IPPK

38 papers

RefSeq Summary

The protein encoded by this gene is a kinase that phosphorylates position 2 of inositol-1,3,4,5,6-pentakisphosphate to form inositol-1,2,3,4,5,6-hexakisphosphate (InsP6). InsP6 has a variety of functi...

Pfam Domains

Ins_P5_2-kinaa 13–457UCSCInositol-pentakisphosphate 2-kinase

Gene Aliases

HGNC Name

inositol-pentakisphosphate 2-kinase

HGNC Previous Symbol

C9orf12

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr9:92616050 G>C

NM_022755.6

p.Q420E

c.1258C>G

Ins_P5_2-kin

Exome: 0.3% (AC=3804, hom=6)Genome: 0.2% (AC=345, hom=1)20 overlapping SVs

Surrounding Variants

2 papers

chr9:92615933 C>T

NM_022755.6

p.V459I

c.1375G>A

Exome: 0.0% (AC=96, hom=0)Genome: 0.0% (AC=10, hom=0)20 overlapping SVs

2 papers

chr9:92615917 T>C

NM_022755.6

p.K464R

c.1391A>G

Exome: 0.4% (AC=5602, hom=16)Genome: 0.3% (AC=466, hom=2)20 overlapping SVs

2 papers

chr9:92615894 C>T

NM_022755.6

p.A472T

c.1414G>A

Exome: 0.0% (AC=673, hom=5)Genome: 0.0% (AC=69, hom=0)20 overlapping SVs

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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."