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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:INPP5K

Variant:p.I50T

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

Selected Variant

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

Surrounding Variants

1 paper

chr17:1513888 C>T

NM_016532.4

p.D46N

c.136G>A

Exo_endo_phos2

exact variant not in gnomAD11 overlapping SVs

1 paper

chr17:1513902 C>T

NM_016532.4

p.R41Q

c.122G>A

Exo_endo_phos2

Exome: 0.0% (AC=23, hom=0)Genome: 0.0% (AC=2, hom=0)11 overlapping SVs

1 paper

chr17:1513935 A>G

NM_016532.4

p.L30P

c.89T>C

Exo_endo_phos2

exact variant not in gnomAD11 overlapping SVs

1 paper

chr17:1513956 A>G

NM_016532.4

p.V23A

c.68T>C

Exo_endo_phos2

exact variant not in gnomAD11 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

1 paper

chr17:1513961 C>A

NM_016532.4

p.W21C

c.63G>T

Exo_endo_phos2

exact variant not in gnomAD11 overlapping SVs

1 paper

chr17:1513961 C>G

NM_016532.4

p.W21C

c.63G>C

Exo_endo_phos2

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

1 paper

chr17:1513528 G>T

NM_016532.4

p.L62L

c.186C>A

Exo_endo_phos2

exact variant not in gnomAD10 overlapping SVs

1 paper

chr17:1513501 C>T

NM_016532.4

p.S71S

c.213G>A

Exo_endo_phos2

Exome: 0.2% (AC=2725, hom=7)Genome: 0.1% (AC=171, hom=0)10 overlapping SVs

1 paper

chr17:1513470 G>C

NM_016532.4

p.P82A

c.244C>G

Exo_endo_phos2

Exome: 0.0% (AC=13, hom=0)Genome: n/a10 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."