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

1–12 of 332 variants

39 papers

NM_016953.4

p.R307*

c.919C>T

22 papers

NM_016953.4

p.R867G

c.2599C>G

20 papers

NM_016953.4

p.R804H

c.2411G>A

18 papers

NM_016953.4

p.Y727C

c.2180A>G

17 papers

NM_016953.4

p.M878V

c.2632A>G

11 papers

NM_016953.4

p.A349T

c.1045G>A

11 papers

NM_016953.4

p.D609N

c.1825G>A

9 papers

NM_016953.4

p.R52T

c.155G>C

9 papers

NM_016953.4

p.G57delFs

c.171delA

7 papers

NM_016953.4

p.R202C

c.604C>T

6 papers

NM_016953.4

p.I312N

c.935T>A

6 papers

NM_016953.4

p.Y658C

c.1973A>G