Varaico: Literature-Extracted Genetic Variants

Gene:MINPP1
Variant:p.R103K

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.R103K
c.308G>A
Surrounding Variants
2 papers
NM_004897.5
p.K101fs
c.301_302fs
2 papers
NM_004897.5
p.R100delFs
c.300delC
2 papers
NM_004897.5
p.E75fs
c.223_224fs
3 papers
NM_004897.5
p.E75insFs
c.223_224ins5
1 paper
NM_004897.5
p.W134*
c.402G>A
1 paper
NM_004897.5
p.W68*
c.204G>A
1 paper
NM_004897.5
p.W68*
c.203G>A
1 paper
NM_004897.5
p.W141*
c.422G>A
1 paper
NM_004897.5
p.W141*
c.423G>A
1 paper
NM_004897.5
p.L61F
c.183G>C
1 paper
NM_004897.5
p.L61F
c.183G>T
3 papers
NM_004897.5
p.L61*
c.182T>A
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