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.T732M

c.2195C>T

Surrounding Variants

1 paper

NM_004036.5

p.E742E

c.2226A>G

1 paper

NM_004036.5

p.A758A

c.2274C>T

1 paper

NM_004036.5

p.V759M

c.2275G>A

1 paper

NM_004036.5

p.M724_L725Splc

c.2173-83G>T

1 paper

NM_004036.5

p.A786S

c.2356G>T

1 paper

NM_004036.5

p.A786T

c.2356G>A

3 papers

NM_004036.5

p.V787M

c.2359G>A

1 paper

NM_004036.5

p.I790V

c.2368A>G

1 paper

NM_004036.5

p.R796C

c.2386C>T

1 paper

NM_004036.5

p.R796H

c.2387G>A

1 paper

NM_004036.5

p.P797L

c.2390C>T

1 paper

NM_004036.5

p.D811Splc

c.2432+10A>T