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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IPPK

Variant:p.T44A

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

chr9:92656551 T>C

NM_022755.6

p.T44A

c.130A>G

Ins_P5_2-kin

Exome: 0.0% (AC=46, hom=1)Genome: 0.0% (AC=2, hom=0)20 overlapping SVs

Surrounding Variants

2 papers

chr9:92658651 G>C

NM_022755.6

p.P38A

c.112C>G

Ins_P5_2-kin

exact variant not in gnomAD20 overlapping SVs

2 papers

chr9:92658681 G>A

NM_022755.6

p.R28C

c.82C>T

Ins_P5_2-kin

Exome: 0.0% (AC=32, hom=0)Genome: 0.0% (AC=3, hom=0)20 overlapping SVs

1 paper

chr9:92658681 G>C

NM_022755.6

p.R28G

c.82C>G

Ins_P5_2-kin

exact variant not in gnomAD20 overlapping SVs

1 paper

chr9:92649550 T>A

NM_022755.6

p.D106V

c.317A>T

Ins_P5_2-kin

exact variant not in gnomAD20 overlapping SVs

1 paper

chr9:92649547 G>T

NM_022755.6

p.T107N

c.320C>A

Ins_P5_2-kin

Exome: 0.0% (AC=1, hom=0)Genome: n/a20 overlapping SVs

1 paper

chr9:92649485 C>G

NM_022755.6

p.E128Q

c.382G>C

Ins_P5_2-kin

exact variant not in gnomAD20 overlapping SVs

3 papers

chr9:92649479 G>A

NM_022755.6

p.R130W

c.388C>T

Ins_P5_2-kin

Exome: 0.4% (AC=5996, hom=15)Genome: 0.3% (AC=438, hom=0)20 overlapping SVs

1 paper

chr9:92648115 C>G

NM_022755.6

p.V150L

c.448G>C

Ins_P5_2-kin

exact variant not in gnomAD19 overlapping SVs

1 paper

chr9:92648085 G>A

NM_022755.6

p.R160*

c.478C>T

Ins_P5_2-kin

Exome: 0.0% (AC=3, hom=0)Genome: n/a19 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."