Varaico: Literature-Extracted Genetic Variants

ADCY3

206 papers

RefSeq Summary

This gene encodes adenylyl cyclase 3 which is a membrane-associated enzyme and catalyzes the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). This protein appears to be wide...

Pfam Domains

AC_Naa 24–306UCSCAdenylyl cyclase N-terminal extracellular and transmembrane region

Guanylate_cycaa 310–494UCSCAdenylate and Guanylate cyclase catalytic domain

Guanylate_cycaa 914–1121UCSCAdenylate and Guanylate cyclase catalytic domain

Gene Aliases

HGNC Name

adenylate cyclase 3

HGNC Alias Symbol

AC3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004036.5

p.E818*

c.2452G>T

Surrounding Variants

1 paper

NM_004036.5

p.Q821H

c.2463A>T

1 paper

NM_004036.5

p.Q821H

c.2463A>C

7 papers

NM_004036.5

p.D811Splc

c.2433-1G>A

1 paper

NM_004036.5

p.R832Splc

c.2495+11C>T

1 paper

NM_004036.5

p.R832Splc

c.2495+62A>G

1 paper

NM_004036.5

p.R832Splc

c.2495+66C>G

1 paper

NM_004036.5

p.R832Splc

c.2495+79C>T

1 paper

NM_004036.5

p.D811Splc

c.2432+10A>T

1 paper

NM_004036.5

p.P797L

c.2390C>T

1 paper

NM_004036.5

p.R796H

c.2387G>A

1 paper

NM_004036.5

p.R796C

c.2386C>T

1 paper

NM_004036.5

p.I790V

c.2368A>G