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.R161C

c.481C>T

Surrounding Variants

1 paper

NM_004036.5

p.R161R

c.483T>G

1 paper

NM_004036.5

p.A162T

c.484G>A

1 paper

NM_004036.5

p.A162A

c.486C>G

2 papers

NM_004036.5

p.H163Q

c.489C>G

2 papers

NM_004036.5

p.H163Q

c.489C>A

1 paper

NM_004036.5

p.I151T

c.452T>C

1 paper

NM_004036.5

p.I147T

c.440T>C

1 paper

NM_004036.5

p.L146L

c.438C>G

1 paper

NM_004036.5

p.L145R

c.434T>G

2 papers

NM_004036.5

p.W144*

c.432G>A

2 papers

NM_004036.5

p.W144*

c.431G>A

2 papers

NM_004036.5

p.F179L

c.535T>C