Varaico: Literature-Extracted Genetic Variants

Gene:IMPA2
Variant:p.C152Y

IMPA2

33 papers

RefSeq Summary

This locus encodes an inositol monophosphatase. The encoded protein catalyzes the dephosphoylration of inositol monophosphate and plays an important role in phosphatidylinositol signaling. This locus ...

Pfam Domains

Inositol_Paa 16–282UCSCInositol monophosphatase family

Gene Aliases

HGNC Name

inositol monophosphatase 2

HGNC Previous Name

inositol(myo)-1(or 4)-monophosphatase 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014214.3
p.C152Y
c.455G>A
Surrounding Variants
5 papers
NM_014214.3
p.R148Q
c.443G>A
1 paper
NM_014214.3
p.R145W
c.433C>T
3 papers
NM_014214.3
p.E127_L128Splc
c.382-44G>A
1 paper
NM_014214.3
p.E127_L128Splc
c.381+968A>C
1 paper
NM_014214.3
p.E127_L128Splc
c.381+28C>T
1 paper
NM_014214.3
p.F113V
c.337T>G
1 paper
NM_014214.3
p.R112Splc
c.335+660G>A
1 paper
NM_014214.3
p.V110A
c.329T>C
1 paper
NM_014214.3
p.G87G
c.261G>A
1 paper
NM_014214.3
p.I79insFs
c.237dupT
1 paper
NM_014214.3
p.R77Splc
c.231-3630C>T
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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."