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.K480Q

c.1438A>C

Surrounding Variants

1 paper

NM_001083.4

p.K482N

c.1446G>T

1 paper

NM_001083.4

p.K482N

c.1446G>C

1 paper

NM_001083.4

p.F484L

c.1450T>C

1 paper

NM_001083.4

p.F484L

c.1452C>G

1 paper

NM_001083.4

p.F484L

c.1452C>A

2 papers

NM_001083.4

p.E489K

c.1465G>A

1 paper

NM_001083.4

p.E493Q

c.1477G>C

1 paper

NM_001083.4

p.M516I

c.1548G>A

1 paper

NM_001083.4

p.E535Q

c.1603G>C

1 paper

NM_001083.4

p.A544_A545Splc

c.1632+5T>C

1 paper

NM_001083.4

p.L452R

c.1355T>G

1 paper

NM_001083.4

p.L452F

c.1354C>T