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

1–12 of 85 variants

5 papers

NM_001083.4

p.Q860*

c.2578C>T

4 papers

NM_001083.4

p.A93V

c.278C>T

2 papers

NM_033430.3

p.K7*

c.19A>T

2 papers

NM_001083.4

p.S181A

c.541T>G

2 papers

NM_001083.4

p.D299A

c.896A>C

2 papers

NM_001083.4

p.K480Q

c.1438A>C

2 papers

NM_001083.4

p.E489K

c.1465G>A

2 papers

NM_001083.4

p.L641P

c.1922T>C

2 papers

NM_001083.4

p.I778T

c.2333T>C

2 papers

NM_001083.4

p.D803A

c.2408A>C

1 paper

NM_001083.4

p.G5C

c.13G>T

1 paper

NM_001083.4

p.P6del1

c.16_18delGGG