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

2 papers

NM_001083.4

p.L641P

c.1922T>C

Surrounding Variants

1 paper

NM_001083.4

p.S663T

c.1987T>A

1 paper

NM_001083.4

p.H613L

c.1838A>T

1 paper

NM_001083.4

p.I599T

c.1796T>C

1 paper

NM_001083.4

p.N587K

c.1761C>G

1 paper

NM_001083.4

p.N587K

c.1761C>A

1 paper

NM_001083.4

p.R577W

c.1729C>T

1 paper

NM_001083.4

p.T575A

c.1723A>G