Varaico: Literature-Extracted Genetic Variants

Gene:IP6K1
Variant:p.Y88C

IP6K1

27 papers

RefSeq Summary

This gene encodes a member of the inositol phosphokinase family. The encoded protein may be responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (...

Pfam Domains

IPKaa 207–434UCSCInositol polyphosphate kinase

Gene Aliases

HGNC Name

inositol hexakisphosphate kinase 1

HGNC Previous Symbol

IHPK1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_153273.4
p.Y88C
c.263A>G
Surrounding Variants
1 paper
NM_153273.4
p.V77L
c.229G>T
1 paper
NM_153273.4
p.V77L
c.229G>C
1 paper
NM_153273.4
p.R119C
c.355C>T
1 paper
NM_153273.4
p.S137N
c.410G>A
1 paper
NM_153273.4
p.S145Splc
c.435-1585T>C
1 paper
NM_153273.4
p.Q165E
c.493C>G
1 paper
NM_153273.4
p.Q190R
c.569A>G
1 paper
NM_153273.4
p.P71L
c.212C>T
1 paper
NM_153273.4
p.P64L
c.191C>T
1 paper
NM_153273.4
p.C48S
c.143G>C
1 paper
NM_153273.4
p.C48S
c.142T>A
1 paper
NM_153273.4
p.R41H
c.122G>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."