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

4 papers

NM_004036.5

p.H859_V860Splc

c.2578-3T>C

Surrounding Variants

6 papers

NM_004036.5

p.H859_V860Splc

c.2578-1G>A

1 paper

NM_004036.5

p.V860I

c.2578G>A

3 papers

NM_004036.5

p.W870*

c.2609G>A

3 papers

NM_004036.5

p.W870*

c.2610G>A

1 paper

NM_004036.5

p.R885Q

c.2654G>A

1 paper

NM_004036.5

p.R886C

c.2656C>T

1 paper

NM_004036.5

p.R886H

c.2657G>A

1 paper

NM_004036.5

p.N894Y

c.2680A>T

1 paper

NM_004036.5

p.K908K

c.2724G>A

1 paper

NM_004036.5

p.T918M

c.2753C>T

1 paper

NM_004036.5

p.T918T

c.2754G>A

1 paper

NM_004036.5

p.E939D

c.2817G>T