Varaico: Literature-Extracted Genetic Variants

PDE5A

79 papers

RefSeq Summary

This gene encodes a cGMP-binding, cGMP-specific phosphodiesterase, a member of the cyclic nucleotide phosphodiesterase family. This phosphodiesterase specifically hydrolyzes cGMP to 5'-GMP. It is invo...

Pfam Domains

GAFaa 112–262UCSCGAF domain

GAFaa 294–451UCSCGAF domain

PDEase_Iaa 560–794UCSC3'5'-cyclic nucleotide phosphodiesterase

Gene Aliases

HGNC Name

phosphodiesterase 5A

HGNC Previous Name

phosphodiesterase 5A, cGMP-specific

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_001083.4

p.Q860*

c.2578C>T

Surrounding Variants

1 paper

NM_001083.4

p.W853R

c.2557T>C

1 paper

NM_001083.4

p.W853R

c.2557T>A

1 paper

NM_001083.4

p.I821T

c.2462T>C

1 paper

NM_001083.4

p.G819R

c.2455G>C

1 paper

NM_001083.4

p.G819R

c.2455G>A

1 paper

NM_001083.4

p.M816I

c.2448G>T

1 paper

NM_001083.4

p.M816I

c.2448G>C

1 paper

NM_001083.4

p.M816I

c.2448G>A

1 paper

NM_001083.4

p.I813T

c.2438T>C

1 paper

NM_001083.4

p.D803E

c.2409T>G

1 paper

NM_001083.4

p.D803E

c.2409T>A

2 papers

NM_001083.4

p.D803A

c.2408A>C