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.A247T

c.739G>A

Surrounding Variants

1 paper

NM_016953.4

p.E244_G249del0

c.731_745del15

1 paper

NM_016953.4

p.S255F

c.764C>T

1 paper

NM_016953.4

p.C238Y

c.713G>A

1 paper

NM_016953.4

p.D236E

c.708C>G

1 paper

NM_016953.4

p.D236E

c.708C>A

4 papers

NM_016953.4

p.F258Y

c.773T>A

1 paper

NM_016953.4

p.A235S

c.703G>T

1 paper

NM_016953.4

p.V260M

c.778G>A

1 paper

NM_016953.4

p.D234N

c.700G>A

1 paper

NM_016953.4

p.L231_M232insFs

c.693_694insT

1 paper

NM_016953.4

p.L231V

c.691C>G

2 papers

NM_016953.4

p.C230C

c.690C>T