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.L87delFs

c.261delA

Surrounding Variants

1 paper

NM_016953.4

p.H83Q

c.249C>G

1 paper

NM_016953.4

p.A82G

c.245C>G

1 paper

NM_016953.4

p.P78P

c.234A>T

1 paper

NM_016953.4

p.G75S

c.223G>A

1 paper

NM_016953.4

p.G75fs

c.223_224fs

1 paper

NM_016953.4

p.G74insFs

c.221dupG

1 paper

NM_016953.4

p.S101N

c.302G>A

1 paper

NM_016953.4

p.W102L

c.305G>T

1 paper

NM_016953.4

p.V72I

c.214G>A

1 paper

NM_016953.4

p.G105S

c.313G>A

1 paper

NM_016953.4

p.G104_G105del1

c.311_313delCAC

2 papers

NM_016953.4

p.G69G

c.207C>T