Varaico: Literature-Extracted Genetic Variants

PDE11A

261 papers

RefSeq Summary

The 3',5'-cyclic nucleotides cAMP and cGMP function as second messengers in a wide variety of signal transduction pathways. 3',5'-cyclic nucleotide phosphodiesterases (PDEs) catalyze the hydrolysis of...

Pfam Domains

GAFaa 217–370UCSCGAF domain

GAFaa 402–558UCSCGAF domain

PDEase_Iaa 663–898UCSC3'5'-cyclic nucleotide phosphodiesterase

Gene Aliases

HGNC Name

phosphodiesterase 11A

HGNC Alias Name

Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

6 papers

NM_016953.4

p.I312N

c.935T>A

Surrounding Variants

1 paper

NM_016953.4

p.D313N

c.937G>A

1 paper

NM_016953.4

p.E311_D313del0

c.933_938del6

1 paper

NM_016953.4

p.E311_D313del3

c.931_938del9

1 paper

NM_016953.4

p.I312_K314delFs

c.936_940del5

1 paper

NM_016953.4

p.L315V

c.943C>G

39 papers

NM_016953.4

p.R307*

c.919C>T

1 paper

NM_016953.4

p.R306Q

c.917G>A

1 paper

NM_016953.4

p.D305V

c.914A>T

1 paper

NM_016953.4

p.D305A

c.914A>C

5 papers

NM_016953.4

p.R329*

c.985C>T

1 paper

NM_016953.4

p.G333C

c.997G>T

1 paper

NM_016953.4

p.G337_V338insTCC

c.1009_1013ins9