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.H42Y

c.124C>T

Surrounding Variants

1 paper

NM_016953.4

p.R41S

c.123G>C

1 paper

NM_016953.4

p.V35F

c.103G>T

2 papers

NM_016953.4

p.L49F

c.147A>C

1 paper

NM_016953.4

p.E33K

c.97G>A

1 paper

NM_016953.4

p.P51T

c.151C>A

3 papers

NM_016953.4

p.P51L

c.152C>T

1 paper

NM_016953.4

p.R52M

c.155G>T

9 papers

NM_016953.4

p.R52T

c.155G>C

1 paper

NM_016953.4

p.P53H

c.158C>A

1 paper

NM_016953.4

p.A56P

c.166G>C

3 papers

NM_016953.4

p.R28W

c.82C>T

1 paper

NM_016953.4

p.G57insFs

c.170_171insG