Varaico: Literature-Extracted Genetic Variants

Gene:IPMK
Variant:p.S331_Q332delFs

IPMK

43 papers

RefSeq Summary

This gene encodes a member of the inositol phosphokinase family. The encoded protein has 3-kinase, 5-kinase and 6-kinase activities on phosphorylated inositol substrates. The encoded protein plays an ...

Pfam Domains

IPKaa 127–411UCSCInositol polyphosphate kinase

Gene Aliases

HGNC Name

inositol polyphosphate multikinase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_152230.5
p.S331_Q332delFs
c.993_996del4
Surrounding Variants
1 paper
NM_152230.5
p.S331fs
c.991_992fs
2 papers
NM_152230.5
p.S331fs
c.991_992fs
1 paper
NM_152230.5
p.H329delFs
c.986delT
1 paper
NM_152230.5
p.E338E
c.1014A>G
1 paper
NM_152230.5
p.N339N
c.1017T>C
1 paper
NM_152230.5
p.M349V
c.1045A>G
1 paper
NM_152230.5
p.M349I
c.1047G>T
1 paper
NM_152230.5
p.M349I
c.1047G>C
1 paper
NM_152230.5
p.M349I
c.1047G>A
2 papers
NM_152230.5
p.E307delFs
c.920_921delCT
1 paper
NM_152230.5
p.E307fs
c.919_920fs
1 paper
NM_152230.5
p.N303S
c.908A>G
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