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.H63insFs

c.188_189ins5

Surrounding Variants

1 paper

NM_016953.4

p.A62delFs

c.185_186delAG

1 paper

NM_016953.4

p.H63H

c.189C>T

1 paper

NM_016953.4

p.L61_H63del0

c.183_188del6

1 paper

NM_016953.4

p.L61_H63del3

c.181_188del9

1 paper

NM_016953.4

p.S64N

c.191G>A

2 papers

NM_016953.4

p.T58fs

c.172_173fs

1 paper

NM_016953.4

p.T58fs

c.172_173fs

9 papers

NM_016953.4

p.G57delFs

c.171delA

1 paper

NM_016953.4

p.G57insFs

c.170_171insG

4 papers

NM_016953.4

p.G57fs

c.169_170fs

2 papers

NM_016953.4

p.G69G

c.207C>T

1 paper

NM_016953.4

p.A56P

c.166G>C