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

1–12 of 67 variants

24 papers

NM_021222.3

p.D106N

c.316G>A

17 papers

NM_021222.3

p.G174Splc

c.521-2A>G

13 papers

NM_021222.3

p.D30N

c.88G>A

12 papers

NM_021222.3

p.R297W

c.889C>T

11 papers

NM_021222.3

p.R128Q

c.383G>A

9 papers

NM_021222.3

p.G174*

c.520G>T

8 papers

NM_021222.3

p.P54T

c.160C>A

8 papers

NM_021222.3

p.C180*

c.540T>A

8 papers

NM_021222.3

p.H292fs

c.874_875fs

6 papers

NM_021222.3

p.H292insFs

c.874_875insA

6 papers

NM_021222.3

p.T311T

c.933G>A

5 papers

NM_021222.3

p.L172P

c.515T>C