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.Q762_E763Splc

c.2286+1049G>A

Surrounding Variants

1 paper

NM_001276277.3

p.Q762*

c.2284C>T

1 paper

NM_001276277.3

p.A754delFs

c.2260delG

1 paper

NM_001276277.3

p.D725D

c.2175C>T

1 paper

NM_001276277.3

p.D688delFs

c.2063delA

1 paper

NM_001276277.3

p.C663R

c.1987T>C

1 paper

NM_001276277.3

p.E763*

c.2287G>T

1 paper

NM_001276277.3

p.D797G

c.2390A>G

1 paper

NM_001276277.3

p.H816Y

c.2446C>T

6 papers

NM_001276277.3

p.R837H

c.2510G>A

3 papers

NM_001276277.3

p.N843S

c.2528A>G

1 paper

NM_001276277.3

p.S845insFs

c.2533_2534insA

1 paper

NM_001276277.3

p.K846insFs

c.2536_2537insA