Varaico: Literature-Extracted Genetic Variants

Gene:IMPA1

IMPA1

41 papers

RefSeq Summary

This gene encodes an enzyme that dephosphorylates myo-inositol monophosphate to generate free myo-inositol, a precursor of phosphatidylinositol, and is therefore an important modulator of intracellula...

Pfam Domains

Inositol_Paa 5–271UCSCInositol monophosphatase family

Gene Aliases

HGNC Name

inositol monophosphatase 1

HGNC Previous Name

inositol(myo)-1(or 4)-monophosphatase 1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 31 variants
4 papers
NM_005536.4
p.T95K
c.284C>A
4 papers
NM_005536.4
p.L163_S165insFs
c.489_493dup5
2 papers
NM_005536.4
p.W5insFs
c.14_15insA
2 papers
NM_005536.4
p.P39S
c.115C>T
2 papers
NM_005536.4
p.G69G
c.207T>C
1 paper
NM_005536.4
p.M1insFs
c.2dupT
1 paper
NM_005536.4
p.A2T
c.4G>A
1 paper
NM_005536.4
p.W5insFs
c.13_14insA
1 paper
NM_005536.4
p.V13_T14insA
c.37_41ins3
1 paper
NM_005536.4
p.N32K
c.96T>A
1 paper
NM_005536.4
p.Y62C
c.185A>G
1 paper
NM_005536.4
p.S66Splc
c.197+660G>A
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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."