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

1–12 of 75 variants

6 papers

NM_001276277.3

p.R837H

c.2510G>A

5 papers

NM_001276277.3

p.S419A

c.1255T>G

4 papers

NM_001276277.3

p.S1228G

c.3682A>G

3 papers

NM_001276277.3

p.N843S

c.2528A>G

2 papers

NM_001276277.3

p.L310F

c.930G>C

2 papers

NM_001276277.3

p.L310F

c.930G>T

2 papers

NM_001276277.3

p.R1002Q

c.3005G>A

2 papers

NM_001276277.3

p.S1006A

c.3016T>G

1 paper

NM_001276277.3

p.A4T

c.10G>A

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