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

7 papers

NM_016953.4

p.R202C

c.604C>T

Surrounding Variants

4 papers

NM_016953.4

p.R202H

c.605G>A

2 papers

NM_016953.4

p.N200_E201ins1

c.600_601insGTG

2 papers

NM_016953.4

p.F205L

c.613T>C

2 papers

NM_016953.4

p.F205L

c.615T>G

2 papers

NM_016953.4

p.F205L

c.615T>A

1 paper

NM_016953.4

p.E207*

c.619G>T

2 papers

NM_016953.4

p.K197E

c.589A>G

1 paper

NM_016953.4

p.D191N

c.571G>A

3 papers

NM_016953.4

p.N214S

c.641A>G

1 paper

NM_016953.4

p.P183_T188del6

c.547_563del18

1 paper

NM_016953.4

p.T188_A189ins5

c.562_566ins15

1 paper

NM_016953.4

p.Y185_P186del2

c.553_557del6