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

2 papers

NM_001276277.3

p.S1006A

c.3016T>G

Surrounding Variants

1 paper

NM_001276277.3

p.R1005K

c.3014G>A

1 paper

NM_001276277.3

p.R1003K

c.3008G>A

2 papers

NM_001276277.3

p.R1002Q

c.3005G>A

1 paper

NM_001276277.3

p.Q1031K

c.3091C>A

1 paper

NM_001276277.3

p.V1056V

c.3168A>C

1 paper

NM_001276277.3

p.V1068M

c.3202G>A

1 paper

NM_001276277.3

p.R1083C

c.3247C>T

1 paper

NM_001276277.3

p.P963L

c.2888C>T

1 paper

NM_001276277.3

p.M951fs

c.2851_2852fs

1 paper

NM_001276277.3

p.R943*

c.2827C>T

1 paper

NM_001276277.3

p.D939N

c.2815G>A

1 paper

NM_001276277.3

p.R922G

c.2764A>G