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

5 papers

NM_021222.3

p.L172P

c.515T>C

Surrounding Variants

9 papers

NM_021222.3

p.G174*

c.520G>T

1 paper

NM_021222.3

p.A149A

c.447T>A

1 paper

NM_021222.3

p.C138R

c.412T>C

11 papers

NM_021222.3

p.R128Q

c.383G>A

3 papers

NM_021222.3

p.D126A

c.377A>C

1 paper

NM_021222.3

p.V121L

c.361G>C

1 paper

NM_021222.3

p.G174Splc

c.521-2A>C

17 papers

NM_021222.3

p.G174Splc

c.521-2A>G

1 paper

NM_021222.3

p.D179A

c.536A>C

8 papers

NM_021222.3

p.C180*

c.540T>A

1 paper

NM_021222.3

p.P206S

c.616C>T

1 paper

NM_021222.3

p.R211*

c.631A>T