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.L1190H

c.3569T>A

Surrounding Variants

1 paper

NM_001276277.3

p.P1193R

c.3578C>G

1 paper

NM_001276277.3

p.A1202V

c.3605C>T

1 paper

NM_001276277.3

p.A1162V

c.3485C>T

1 paper

NM_001276277.3

p.R1159W

c.3475C>T

1 paper

NM_001276277.3

p.S1154L

c.3461C>T

1 paper

NM_001276277.3

p.V1125L

c.3373G>C

1 paper

NM_001276277.3

p.I1226T

c.3677T>C

5 papers

NM_001345875.2

p.S1109G

c.3325A>G

NM_001276277.3

p.S1228G

c.3682A>G

1 paper

NM_001276277.3

p.N1117insFs

c.3349dupA

1 paper

NM_001276277.3

p.I1109V

c.3325A>G

1 paper

NM_001276277.3

p.F1107S

c.3320T>C

1 paper

NM_001276277.3

p.V1104L

c.3310G>C