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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:INPP5K

INPP5K

99 papers

RefSeq Summary

This gene encodes a protein with 5-phosphatase activity toward polyphosphate inositol. The protein localizes to the cytosol in regions lacking actin stress fibers. It is thought that this protein may ...

Pfam Domains

Exo_endo_phos2aa 19–317UCSCEndonuclease/Exonuclease/phosphatase family 2

SKICHaa 331–431UCSCSKICH domain

Gene Aliases

HGNC Name

inositol polyphosphate-5-phosphatase K

HGNC Alias Symbol

SKIP

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 87 variants

6 papers

chr17:1513875 A>G

NM_016532.4

p.I50T

c.149T>C

Exo_endo_phos2

Exome: 0.0% (AC=8, hom=0)Genome: n/a11 overlapping SVs

6 papers

chr17:1509254 G>A

NM_016532.4

p.R160W

c.478C>T

Exo_endo_phos2

Exome: 0.0% (AC=19, hom=0)Genome: 0.0% (AC=4, hom=0)10 overlapping SVs

4 papers

chr17:1513957 C>T

NM_016532.4

p.V23M

c.67G>A

Exo_endo_phos2

Exome: 0.0% (AC=13, hom=0)Genome: 0.0% (AC=1, hom=0)11 overlapping SVs

4 papers

chr17:1497970 T>C

NM_016532.4

p.D310G

c.929A>G

Exo_endo_phos2

exact variant not in gnomAD11 overlapping SVs

3 papers

chr17:1513549 C>A

NM_016532.4

p.L55F

c.165G>T

Exo_endo_phos2

Exome: 0.0% (AC=4, hom=0)Genome: n/a10 overlapping SVs

3 papers

chr17:1513549 C>G

NM_016532.4

p.L55F

c.165G>C

Exo_endo_phos2

exact variant not in gnomAD10 overlapping SVs

3 papers

chr17:1509314 C>T

NM_016532.4

p.G140S

c.418G>A

Exo_endo_phos2

Exome: 0.0% (AC=22, hom=0)Genome: 0.0% (AC=1, hom=0)10 overlapping SVs

3 papers

chr17:1498094 C>T

NM_016532.4

p.D269N

c.805G>A

Exo_endo_phos2

Exome: 0.0% (AC=8, hom=0)Genome: 0.0% (AC=1, hom=0)11 overlapping SVs

3 papers

chr17:1498000 T>C

NM_016532.4

p.Y300C

c.899A>G

Exo_endo_phos2

Exome: 0.0% (AC=1, hom=0)Genome: n/a11 overlapping SVs

3 papers

chr17:1496679 A>G

NM_016532.4

p.I363T

c.1088T>C

SKICH Exo_endo_phos2

Exome: 0.0% (AC=2, hom=0)Genome: n/a10 overlapping SVs

2 papers

chr17:1509784 T>C

NM_016532.4

p.M93V

c.277A>G

Exo_endo_phos2

exact variant not in gnomAD10 overlapping SVs

2 papers

chr17:1509235 C>T

NM_016532.4

p.R166Q

c.497G>A

Exo_endo_phos2

Exome: 0.0% (AC=327, hom=2)Genome: 0.0% (AC=28, hom=0)10 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."