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

5 papers

NM_001276277.3

p.S419A

c.1255T>G

Surrounding Variants

1 paper

NM_001276277.3

p.N455K

c.1365C>A

1 paper

NM_001276277.3

p.N455K

c.1365C>G

1 paper

NM_001276277.3

p.R388H

c.1163G>A

1 paper

NM_001276277.3

p.R477H

c.1430G>A

1 paper

NM_001276277.3

p.R477L

c.1430G>T

1 paper

NM_001276277.3

p.S492C

c.1475C>G

1 paper

NM_001276277.3

p.S331F

c.992C>T

1 paper

NM_001276277.3

p.D321Y

c.961G>T

2 papers

NM_001276277.3

p.L310F

c.930G>C

2 papers

NM_001276277.3

p.L310F

c.930G>T

1 paper

NM_001276277.3

p.K302_Q303Splc

c.907-108A>G

1 paper

NM_001276277.3

p.G580W

c.1738G>T