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.H664Q

c.1992C>A

Surrounding Variants

1 paper

NM_016953.4

p.H664Q

c.1992C>G

1 paper

NM_016953.4

p.V661F

c.1981G>T

1 paper

NM_016953.4

p.F670ins1

c.2008_2009insCCG

1 paper

NM_016953.4

p.F670ins1

c.2008_2009insCCC

6 papers

NM_016953.4

p.Y658C

c.1973A>G

1 paper

NM_016953.4

p.R655K

c.1964G>A

1 paper

NM_016953.4

p.L675L

c.2025G>A

4 papers

NM_016953.4

p.A678T

c.2032G>A

1 paper

NM_016953.4

p.T681_T682Splc

c.2043+2T>C

1 paper

NM_016953.4

p.E645_T646Splc

c.1936-2A>T

1 paper

NM_016953.4

p.Y644C

c.1931A>G

1 paper

NM_016953.4

p.D643V

c.1928A>T