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

1 paper

NM_016953.4

p.M623R

c.1868T>G

Surrounding Variants

1 paper

NM_016953.4

p.A622V

c.1865C>T

1 paper

NM_001077358.2

p.D261D

c.783C>T

NM_001077196.2

p.D175D

c.525C>T

1 paper

NM_016953.4

p.L618_D619insFs

c.1854_1855insC

1 paper

NM_016953.4

p.D619N

c.1855G>A

1 paper

NM_016953.4

p.R629W

c.1885C>T

1 paper

NM_016953.4

p.M632V

c.1894A>G

1 paper

NM_016953.4

p.M636V

c.1906A>G

1 paper

NM_016953.4

p.D610A

c.1829A>C

1 paper

NM_016953.4

p.D610insFs

c.1828_1829insC

11 papers

NM_016953.4

p.D609N

c.1825G>A

3 papers

NM_016953.4

p.K641E

c.1921A>G

3 papers

NM_016953.4

p.S604*

c.1811C>G