Varaico: Literature-Extracted Genetic Variants

Gene:MINPP1

MINPP1

41 papers

RefSeq Summary

This gene encodes multiple inositol polyphosphate phosphatase; an enzyme that removes 3-phosphate from inositol phosphate substrates. It is the only enzyme known to hydrolzye inositol pentakisphosphat...

Pfam Domains

His_Phos_2aa 81–439UCSCHistidine phosphatase superfamily (branch 2)

Gene Aliases

HGNC Name

multiple inositol-polyphosphate phosphatase 1

HGNC Alias Symbol

MIPP

Papers
RefSeq ID
Protein change
DNA change
1–12 of 79 variants
4 papers
NM_004897.5
p.S25_L32delFs
c.75_94del20
4 papers
NM_004897.5
p.L61ins1
c.181_182insGAC
4 papers
NM_004897.5
p.T181_S182insGAC
c.541_545ins9
4 papers
NM_004897.5
p.I331S
c.992T>G
3 papers
NM_004897.5
p.L27fs
c.79_80fs
3 papers
NM_004897.5
p.S41L
c.122C>T
3 papers
NM_004897.5
p.L61*
c.182T>A
3 papers
NM_004897.5
p.E75insFs
c.223_224ins5
3 papers
NM_004897.5
p.D223_K224ins5
c.667_671ins15
3 papers
NM_004897.5
p.F228L
c.682T>C
3 papers
NM_004897.5
p.F228L
c.684T>A
3 papers
NM_004897.5
p.F228L
c.684T>G
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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."