Varaico: Literature-Extracted Genetic Variants

PPIP5K2

87 papers

RefSeq Summary

This gene encodes a member of the histidine acid phosphatase family of proteins. Despite containing a histidine acid phosphatase domain, the encoded protein functions as an inositol pyrophosphate kina...

Pfam Domains

PPIP5K2_Naa 44–133UCSCDiphosphoinositol pentakisphosphate kinase 2 N-terminal domain

His_Phos_2aa 379–894UCSCHistidine phosphatase superfamily (branch 2)

Gene Aliases

HGNC Name

diphosphoinositol pentakisphosphate kinase 2

HGNC Previous Symbols

HISPPD1; DFNB100

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001276277.3

p.A4T

c.10G>A

Surrounding Variants

1 paper

NM_001276277.3

p.R6insFs

c.18dupA

1 paper

NM_001276277.3

p.D29A

c.86A>C

1 paper

NM_001276277.3

p.K58delFs

c.172delA

1 paper

NM_001276277.3

p.K58fs

c.172_173fs

1 paper

NM_001276277.3

p.R66L

c.197G>T

1 paper

NM_001276277.3

p.A110V

c.329C>T

1 paper

NM_001276277.3

p.F120L

c.358T>C

1 paper

NM_001276277.3

p.F120L

c.360T>A

1 paper

NM_001276277.3

p.F120L

c.360T>G

1 paper

NM_001276277.3

p.M127L

c.379A>C

1 paper

NM_001276277.3

p.M127L

c.379A>T

1 paper

NM_001276277.3

p.P161L

c.482C>T