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

1 paper

NM_001083.4

p.L452R

c.1355T>G

Surrounding Variants

1 paper

NM_001083.4

p.L452F

c.1354C>T

1 paper

NM_001083.4

p.R432K

c.1295G>A

1 paper

NM_001083.4

p.L422P

c.1265T>C

1 paper

NM_001083.4

p.D396N

c.1186G>A

1 paper

NM_001083.4

p.F380S

c.1139T>C

2 papers

NM_001083.4

p.K480Q

c.1438A>C