Varaico: Literature-Extracted Genetic Variants

Gene:MINPP1
Variant:p.F285L

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.F285L
c.853T>C
Surrounding Variants
3 papers
NM_004897.5
p.A284D
c.851C>A
1 paper
NM_004897.5
p.A284G
c.851C>G
1 paper
NM_004897.5
p.F285L
c.855T>A
1 paper
NM_004897.5
p.F285L
c.855T>G
1 paper
NM_001178118.2
p.W100delFs
c.300delG
1 paper
NM_004897.5
p.A310S
c.928G>T
2 papers
NM_004897.5
p.K311_V312Splc
c.933+34T>A
1 paper
NM_004897.5
p.K311_V312Splc
c.933+1948C>T
1 paper
NM_001178118.2
p.L75insFs
c.223_224ins5
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
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