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.S181A

c.541T>G

Surrounding Variants

1 paper

NM_001083.4

p.A182D

c.545C>A

1 paper

NM_001083.4

p.R184H

c.551G>A

1 paper

NM_001083.4

p.L189F

c.565C>T

1 paper

NM_001083.4

p.C169S

c.505T>A

1 paper

NM_001083.4

p.V165I

c.493G>A

1 paper

NM_001083.4

p.L163*

c.488T>A

1 paper

NM_001083.4

p.L163fs

c.487_488fs

1 paper

NM_001083.4

p.A235S

c.703G>T

1 paper

NM_001083.4

p.E119V

c.356A>T

1 paper

NM_001083.4

p.S104A

c.310T>G

1 paper

NM_001083.4

p.S102A

c.304T>G

1 paper

NM_001083.4

p.I101V

c.301A>G