Varaico: Literature-Extracted Genetic Variants

PRUNE1

73 papers

RefSeq Summary

This gene encodes a member of the DHH protein superfamily of phosphoesterases. This protein has been found to function as both a nucleotide phosphodiesterase and an exopolyphosphatase. This protein is...

Pfam Domains

DHHaa 19–176UCSCDHH family, N-terminal domain

DHHA2aa 216–358UCSCDHHA2 domain

Gene Aliases

HGNC Name

prune exopolyphosphatase 1

HGNC Alias Symbols

DRES-17; HTCD37; H-PRUNE

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_021222.3

p.G227Splc

c.680-10T>A

Surrounding Variants

1 paper

NM_021222.3

p.E231insFs

c.692_693insG

1 paper

NM_021222.3

p.T240T

c.720T>C

1 paper

NM_021222.3

p.R243delFs

c.727_728delAG

2 papers

NM_021222.3

p.V246I

c.736G>A

1 paper

NM_021222.3

p.I250insFs

c.749_750insG

1 paper

NM_021222.3

p.A221fs

c.661_662fs

1 paper

NM_021222.3

p.D213N

c.637G>A

1 paper

NM_021222.3

p.R211K

c.632G>A

1 paper

NM_021222.3

p.L270P

c.809T>C

1 paper

NM_021222.3

p.R211*

c.631A>T

1 paper

NM_021222.3

p.P206S

c.616C>T

1 paper

NM_021222.3

p.A276V

c.827C>T