Varaico: Literature-Extracted Genetic Variants

Gene:INPP5K
Variant:p.M93V

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
2 papers
NM_016532.4
p.M93V
c.277A>G
Surrounding Variants
1 paper
NM_016532.4
p.P108T
c.322C>A
3 papers
NM_016532.4
p.G140S
c.418G>A
1 paper
NM_016532.4
p.S144I
c.431G>T
1 paper
NM_016532.4
p.I146insFs
c.436_437insAA
1 paper
NM_016532.4
p.I146M
c.438C>G
1 paper
NM_016532.4
p.I154T
c.461T>C
6 papers
NM_016532.4
p.R160W
c.478C>T
2 papers
NM_016532.4
p.R166Q
c.497G>A
1 paper
NM_016532.4
p.M170T
c.509T>C
1 paper
NM_016532.4
p.R176G
c.526C>G
1 paper
NM_016532.4
p.R176Q
c.527G>A
1 paper
NM_016532.4
p.H184N
c.550C>A
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