Varaico: Literature-Extracted Genetic Variants

Gene:INPP5K
Variant:p.P283S

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
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016532.4
p.P283S
c.847C>T
Surrounding Variants
1 paper
NM_016532.4
p.G282D
c.845G>A
1 paper
NM_016532.4
p.R277Q
c.830G>A
1 paper
NM_016532.4
p.L272V
c.814C>G
2 papers
NM_016532.4
p.S294del1
c.880_881delGGA
1 paper
NM_016532.4
p.S296F
c.887C>T
3 papers
NM_016532.4
p.D269N
c.805G>A
3 papers
NM_016532.4
p.Y300C
c.899A>G
1 paper
NM_016532.4
p.S302C
c.904A>T
1 paper
NM_016532.4
p.R263C
c.787C>T
1 paper
NM_016532.4
p.S259S
c.777T>C
1 paper
NM_016532.4
p.S309G
c.925A>G
1 paper
NM_016532.4
p.S309S
c.927C>T
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