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.A161P

c.481G>C

Surrounding Variants

1 paper

NM_016953.4

p.A161T

c.481G>A

1 paper

NM_016953.4

p.K160K

c.480G>A

1 paper

NM_016953.4

p.R159Q

c.476G>A

1 paper

NM_016953.4

p.S163S

c.489C>G

3 papers

NM_016953.4

p.L164delFs

c.491_492delCA

1 paper

NM_016953.4

p.A156fs

c.466_467fs

2 papers

NM_016953.4

p.R153*

c.457C>T

1 paper

NM_016953.4

p.R153G

c.457C>G

1 paper

NM_016953.4

p.S143_V152delFs

c.427_454del28

1 paper

NM_016953.4

p.H170D

c.508C>G

1 paper

NM_016953.4

p.H170H

c.510T>C

1 paper

NM_016953.4

p.S173R

c.517A>C