Varaico: Literature-Extracted Genetic Variants

Gene:MINPP1
Variant:p.F228L

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
3 papers
NM_004897.5
p.F228L
c.682T>C
Surrounding Variants
3 papers
NM_004897.5
p.F228L
c.684T>A
3 papers
NM_004897.5
p.F228L
c.684T>G
1 paper
NM_001178118.2
p.M25_E32delFs
c.75_94del20
3 papers
NM_004897.5
p.D223_K224ins5
c.667_671ins15
1 paper
NM_004897.5
p.N222K
c.666T>A
1 paper
NM_004897.5
p.N222K
c.666T>G
1 paper
NM_004897.5
p.N222insFs
c.665_666insT
1 paper
NM_004897.5
p.P219P
c.657A>G
1 paper
NM_004897.5
p.E240K
c.718G>A
1 paper
NM_004897.5
p.K241Fs
c.721delinsATFs
1 paper
NM_004897.5
p.D213Splc
c.638-1G>T
1 paper
NM_004897.5
p.D213Splc
c.638-3C>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."