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.E734delFs

c.2202delC

Surrounding Variants

1 paper

NM_016953.4

p.E734fs

c.2200_2201fs

1 paper

NM_001077196.2

p.H293R

c.878A>G

1 paper

NM_016953.4

p.A741A

c.2223C>A

18 papers

NM_016953.4

p.Y727C

c.2180A>G

2 papers

NM_016953.4

p.Y727D

c.2179T>G

1 paper

NM_016953.4

p.A731_L745del15

c.2191_2234del45

1 paper

NM_016953.4

p.E748_G749Splc

c.2244+34A>G

1 paper

NM_016953.4

p.E748_G749Splc

c.2244+58C>T

3 papers

NM_016953.4

p.L756Q

c.2267T>A

NM_001077196.2

p.L312Q

c.935T>A

4 papers

NM_016953.4

p.S757fs

c.2269_2270fs

4 papers

NM_016953.4

p.L756_S758delFs

c.2268_2272del5

1 paper

NM_016953.4

p.Q766*

c.2296C>T