Varaico: Literature-Extracted Genetic Variants

Gene:IPPK
Variant:p.L388L

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
Selected Variant
2 papers
NM_022755.6
p.L388L
c.1162C>T
Surrounding Variants
1 paper
NM_022755.6
p.A387V
c.1160C>T
2 papers
NM_022755.6
p.T378I
c.1133C>T
2 papers
NM_022755.6
p.L376F
c.1126C>T
1 paper
NM_022755.6
p.Q371*
c.1111C>T
1 paper
NM_022755.6
p.G318D
c.953G>A
1 paper
NM_022755.6
p.N308fs
c.922_923fs
1 paper
NM_022755.6
p.P297S
c.889C>T
1 paper
NM_022755.6
p.G286R
c.856G>A
1 paper
NM_022755.6
p.P283L
c.848C>T
3 papers
NM_022755.6
p.R277W
c.829C>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."