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

2 papers

NM_004036.5

p.F179L

c.537C>A

Surrounding Variants

2 papers

NM_004036.5

p.F179L

c.537C>G

2 papers

NM_004036.5

p.F179L

c.535T>C

1 paper

NM_004036.5

p.F180del1

c.538_539delGAA

1 paper

NM_004036.5

p.T182M

c.545C>T

3 papers

NM_004036.5

p.S186N

c.557G>A

1 paper

NM_004036.5

p.I190F

c.568A>T

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.A162A

c.486C>G

1 paper

NM_004036.5

p.A162T

c.484G>A

1 paper

NM_004036.5

p.R161R

c.483T>G

1 paper

NM_004036.5

p.R161C

c.481C>T