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.R28W

c.82C>T

Surrounding Variants

1 paper

NM_016953.4

p.E23_D24insFs

c.69_70insCT

1 paper

NM_016953.4

p.E23insFs

c.67_68insCC

1 paper

NM_016953.4

p.E33K

c.97G>A

1 paper

NM_016953.4

p.L21del1

c.61_63delCAA

4 papers

NM_016953.4

p.E20_L21del2

c.58_62del6

1 paper

NM_016953.4

p.V35F

c.103G>T

1 paper

NM_016953.4

p.P19Q

c.56C>A

2 papers

NM_016953.4

p.F14Y

c.41T>A

1 paper

NM_016953.4

p.R41S

c.123G>C

1 paper

NM_016953.4

p.H42Y

c.124C>T

1 paper

NM_016953.4

p.T13I

c.38C>T

1 paper

NM_016953.4

p.E12delFs

c.34delC