Varaico: Literature-Extracted Genetic Variants

Gene:MINPP1
Variant:p.L75insFs

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
Selected Variant
1 paper
NM_001178118.2
p.L75insFs
c.223_224ins5
Surrounding Variants
1 paper
NM_004897.5
p.D275N
c.823G>A
1 paper
NM_004897.5
p.Q270R
c.809A>G
1 paper
NM_004897.5
p.L262F
c.786A>C
1 paper
NM_004897.5
p.L262F
c.786A>T
1 paper
NM_001178118.2
p.L61*
c.182T>A
1 paper
NM_001178118.2
p.L61*
c.182T>G
1 paper
NM_001178118.2
p.L61ins1
c.181_182insGAC
1 paper
NM_004897.5
p.M258V
c.772A>G
1 paper
NM_004897.5
p.E257K
c.769G>A
1 paper
NM_004897.5
p.K241Fs
c.721delinsATFs
1 paper
NM_004897.5
p.E240K
c.718G>A
3 papers
NM_004897.5
p.F228L
c.684T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."