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.R133delFs

c.398delC

Surrounding Variants

1 paper

NM_004036.5

p.T135A

c.403A>G

1 paper

NM_004036.5

p.R136C

c.406C>T

1 paper

NM_004036.5

p.L139R

c.416T>G

1 paper

NM_004036.5

p.Y141S

c.422A>C

1 paper

NM_004036.5

p.Y141Y

c.423C>T

1 paper

NM_004036.5

p.V142V

c.426G>C

1 paper

NM_004036.5

p.C125F

c.374G>T

1 paper

NM_004036.5

p.C125Y

c.374G>A

2 papers

NM_004036.5

p.W144*

c.431G>A

2 papers

NM_004036.5

p.W144*

c.432G>A

1 paper

NM_004036.5

p.L145R

c.434T>G

1 paper

NM_004036.5

p.L146L

c.438C>G