Varaico: Literature-Extracted Genetic Variants

Gene:MINPP1
Variant:p.L19P

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_004897.5
p.L19P
c.56T>C
Surrounding Variants
4 papers
NM_004897.5
p.S25_L32delFs
c.75_94del20
1 paper
NM_004897.5
p.S25*
c.74C>A
1 paper
NM_004897.5
p.V13I
c.37G>A
2 papers
NM_004897.5
p.S12T
c.34T>A
3 papers
NM_004897.5
p.L27fs
c.79_80fs
1 paper
NM_004897.5
p.A40Fs
c.118delinsATFs
3 papers
NM_004897.5
p.S41L
c.122C>T
2 papers
NM_004897.5
p.Y53D
c.157T>G
1 paper
NM_004897.5
p.Y53C
c.158A>G
1 paper
NM_004897.5
p.N57D
c.169A>G
4 papers
NM_004897.5
p.L61ins1
c.181_182insGAC
3 papers
NM_004897.5
p.L61*
c.182T>A
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