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.R808Splc

c.2424-1G>C

Surrounding Variants

1 paper

NM_016953.4

p.R808Splc

c.2424-14G>T

1 paper

NM_016953.4

p.D816H

c.2446G>C

5 papers

NM_016953.4

p.V820M

c.2458G>A

1 paper

NM_016953.4

p.V820delFs

c.2460delC

1 paper

NM_016953.4

p.P823L

c.2468C>T

1 paper

NM_016953.4

p.R808Splc

c.2424-47T>C

1 paper

NM_016953.4

p.I826V

c.2476A>G

1 paper

NM_016953.4

p.R808Splc

c.2424-125A>G

1 paper

NM_016953.4

p.R804L

c.2411G>T

1 paper

NM_016953.4

p.R804P

c.2411G>C

20 papers

NM_016953.4

p.R804H

c.2411G>A

1 paper

NM_001077358.2

p.S434G

c.1300A>G