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.P6del1

c.16_18delGGG

Surrounding Variants

1 paper

NM_001083.4

p.G5C

c.13G>T

1 paper

NM_001083.4

p.Q16_Q18del3

c.46_53del9

1 paper

NM_001083.4

p.D28E

c.84C>A

1 paper

NM_001083.4

p.F40L

c.118T>C

1 paper

NM_001083.4

p.F40L

c.120T>G

1 paper

NM_001083.4

p.F40L

c.120T>A

1 paper

NM_001083.4

p.T41I

c.122C>T

1 paper

NM_001083.4

p.S43L

c.128C>T

1 paper

NM_001083.4

p.R51Splc

c.152+2T>A

2 papers

NM_033430.3

p.K7*

c.19A>T