Varaico: Literature-Extracted Genetic Variants

Gene:IMPA1
Variant:p.L163_S165insFs

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
Selected Variant
4 papers
NM_005536.4
p.L163_S165insFs
c.489_493dup5
Surrounding Variants
1 paper
NM_005536.4
p.S165fs
c.493_494fs
1 paper
NM_005536.4
p.G164S
c.490G>A
1 paper
NM_005536.4
p.L182fs
c.544_545fs
1 paper
NM_005536.4
p.L182Fs
c.544_545delinsGFs
1 paper
NM_005536.4
p.G189W
c.565G>T
1 paper
NM_005536.4
p.F119C
c.356T>G
1 paper
NM_005536.4
p.T96A
c.286A>G
4 papers
NM_005536.4
p.T95K
c.284C>A
1 paper
NM_005536.4
p.S79insFs
c.237dupT
1 paper
NM_005536.4
p.V73V
c.219G>A
2 papers
NM_005536.4
p.G69G
c.207T>C
1 paper
NM_005536.4
p.S66Splc
c.197+660G>A
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