Varaico: Literature-Extracted Genetic Variants

PDE1B

45 papers

RefSeq Summary

The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE1 subfamily. Members of the PDE1 family are calmodulin-dependent PDEs that are stimulated by a ...

Pfam Domains

PDEase_I_Naa 77–137UCSC3'5'-cyclic nucleotide phosphodiesterase N-terminal

PDEase_Iaa 222–450UCSC3'5'-cyclic nucleotide phosphodiesterase

Gene Aliases

HGNC Name

phosphodiesterase 1B

HGNC Previous Symbol

PDES1B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000924.4

p.V439_A440delFs

c.1315_1319del5

Surrounding Variants

1 paper

NM_000924.4

p.V439M

c.1315G>A

1 paper

NM_000924.4

p.T437_D438delFs

c.1311_1314del4

1 paper

NM_000924.4

p.S443delFs

c.1327_1328delAG

1 paper

NM_000924.4

p.T432S

c.1294A>T

1 paper

NM_000924.4

p.E430Q

c.1288G>C

2 papers

NM_000924.4

p.A448V

c.1343C>T

1 paper

NM_000924.4

p.S452_K453del2

c.1354_1358del6

1 paper

NM_000924.4

p.I422_G423delFs

c.1264_1267del4

1 paper

NM_000924.4

p.G472_P476delFs

c.1415_1427del13

1 paper

NM_000924.4

p.R488H

c.1463G>A

1 paper

NM_000924.4

p.Q490*

c.1468C>T

1 paper

NM_000924.4

p.F392L

c.1176C>A