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

2 papers

NM_021222.3

p.D28A

c.83A>C

Surrounding Variants

13 papers

NM_021222.3

p.D30N

c.88G>A

1 paper

NM_021222.3

p.N24delFs

c.72delT

1 paper

NM_021222.3

p.N24H

c.70A>C

1 paper

NM_021222.3

p.H19R

c.56A>G

1 paper

NM_021222.3

p.L38fs

c.112_113fs

1 paper

NM_021222.3

p.L38delFs

c.114delG

4 papers

NM_021222.3

p.L18fs

c.52_53fs

1 paper

NM_021222.3

p.A39V

c.116C>T

3 papers

NM_021222.3

p.P17insFs

c.50dupC

4 papers

NM_021222.3

p.K44_T45Splc

c.132+2T>C

1 paper

NM_021222.3

p.V53M

c.157G>A

8 papers

NM_021222.3

p.P54T

c.160C>A