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

3 papers

NM_016953.4

p.G9insFs

c.26_27ins7

Surrounding Variants

1 paper

NM_016953.4

p.G9_E10insFs

c.27_28ins7

4 papers

NM_016953.4

p.D7delFs

c.20_21delGT

1 paper

NM_016953.4

p.D7fs

c.19_20fs

1 paper

NM_016953.4

p.E12delFs

c.34delC

1 paper

NM_016953.4

p.T13I

c.38C>T

2 papers

NM_016953.4

p.F14Y

c.41T>A

1 paper

NM_016953.4

p.A2delFs

c.4delC

1 paper

NM_016953.4

p.M1I

c.3G>T

1 paper

NM_016953.4

p.M1I

c.3G>C

5 papers

NM_016953.4

p.M1V

c.1A>G

1 paper

NM_016953.4

p.P19Q

c.56C>A

4 papers

NM_016953.4

p.E20_L21del2

c.58_62del6