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

18 papers

NM_016953.4

p.M878V

c.2632A>G

NM_001077196.2

p.M434V

c.1300A>G

Surrounding Variants

2 papers

NM_016953.4

p.I873T

c.2618T>C

22 papers

NM_016953.4

p.R867G

c.2599C>G

1 paper

NM_016953.4

p.S854_A855Splc

c.2563-26G>A

1 paper

NM_016953.4

p.S854_A855Splc

c.2563-112C>T

1 paper

NM_016953.4

p.S854_A855Splc

c.2562+111C>A

1 paper

NM_016953.4

p.S854_A855Splc

c.2562+73G>A

1 paper

NM_016953.4

p.G842_T852del11

c.2524_2555del33

1 paper

NM_016953.4

p.K850E

c.2548A>G

1 paper

NM_016953.4

p.E845V

c.2534A>T

1 paper

NM_016953.4

p.R844P

c.2531G>C

1 paper

NM_016953.4

p.R844W

c.2530C>T

1 paper

NM_016953.4

p.E840*

c.2518G>T