Varaico: Literature-Extracted Genetic Variants

Gene:IPPK

IPPK

38 papers

RefSeq Summary

The protein encoded by this gene is a kinase that phosphorylates position 2 of inositol-1,3,4,5,6-pentakisphosphate to form inositol-1,2,3,4,5,6-hexakisphosphate (InsP6). InsP6 has a variety of functi...

Pfam Domains

Ins_P5_2-kinaa 13–457UCSCInositol-pentakisphosphate 2-kinase

Gene Aliases

HGNC Name

inositol-pentakisphosphate 2-kinase

HGNC Previous Symbol

C9orf12

Papers
RefSeq ID
Protein change
DNA change
1–12 of 28 variants
3 papers
NM_022755.6
p.R130W
c.388C>T
3 papers
NM_022755.6
p.R277W
c.829C>T
2 papers
NM_022755.6
p.K5insFs
c.14dupA
2 papers
NM_022755.6
p.R28C
c.82C>T
2 papers
NM_022755.6
p.P38A
c.112C>G
2 papers
NM_022755.6
p.L376F
c.1126C>T
2 papers
NM_022755.6
p.T378I
c.1133C>T
2 papers
NM_022755.6
p.L388L
c.1162C>T
2 papers
NM_022755.6
p.V459I
c.1375G>A
2 papers
NM_022755.6
p.K464R
c.1391A>G
2 papers
NM_022755.6
p.A472T
c.1414G>A
1 paper
NM_022755.6
p.K5fs
c.13_14fs
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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."