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.D106A

c.317A>C

Surrounding Variants

24 papers

NM_021222.3

p.D106N

c.316G>A

1 paper

NM_021222.3

p.H107N

c.319C>A

1 paper

NM_021222.3

p.H108N

c.322C>A

1 paper

NM_021222.3

p.L100F

c.298C>T

1 paper

NM_021222.3

p.I78T

c.233T>C

2 papers

NM_021222.3

p.R66*

c.196C>T

1 paper

NM_021222.3

p.P54P

c.162A>G

8 papers

NM_021222.3

p.P54T

c.160C>A

1 paper

NM_021222.3

p.V53M

c.157G>A

4 papers

NM_021222.3

p.K44_T45Splc

c.132+2T>C

1 paper

NM_021222.3

p.A39V

c.116C>T

1 paper

NM_021222.3

p.L38delFs

c.114delG