Varaico: Literature-Extracted Genetic Variants

PPIP5K1

35 papers

RefSeq Summary

This gene encodes a dual functional inositol kinase. The encoded enzyme converts inositol hexakisphosphate to diphosphoinositol pentakisphosphate and diphosphoinositol pentakisphosphate to bis-diphosp...

Pfam Domains

PPIP5K2_Naa 55–144UCSCDiphosphoinositol pentakisphosphate kinase 2 N-terminal domain

His_Phos_2aa 390–906UCSCHistidine phosphatase superfamily (branch 2)

Gene Aliases

HGNC Name

diphosphoinositol pentakisphosphate kinase 1

HGNC Previous Symbol

HISPPD2A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001394395.1

p.D144E

c.432T>A

Surrounding Variants

2 papers

NM_001394395.1

p.N96K

c.288T>A

1 paper

NM_001394395.1

p.R221H

c.662G>A

1 paper

NM_001394395.1

p.S244T

c.730T>A

1 paper

NM_001394395.1

p.I246F

c.736A>T

1 paper

NM_001394395.1

p.E248Q

c.742G>C

1 paper

NM_001394395.1

p.E248A

c.743A>C

3 papers

NM_001394395.1

p.E36A

c.107A>C

1 paper

NM_001394395.1

p.R284*

c.850C>T

1 paper

NM_001394395.1

p.S11N

c.32G>A

1 paper

NM_001394395.1

p.T315R

c.944C>G

1 paper

NM_001394395.1

p.H327N

c.979C>A

1 paper

NM_001394395.1

p.F329V

c.985T>G