Varaico: Literature-Extracted Genetic Variants

ADCY8

159 papers

RefSeq Summary

Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. The enzymatic activity is under the control of several hormones, and different polypeptides participat...

Pfam Domains

AC_Naa 139–401UCSCAdenylyl cyclase N-terminal extracellular and transmembrane region

Guanylate_cycaa 405–589UCSCAdenylate and Guanylate cyclase catalytic domain

Adcy_cons_domaa 617–712UCSCAdenylate cyclase, conserved domain

Guanylate_cycaa 973–1172UCSCAdenylate and Guanylate cyclase catalytic domain

Gene Aliases

HGNC Name

adenylate cyclase 8

HGNC Alias Symbols

HBAC1; AC8

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001115.3

p.T249S

c.746C>G

Surrounding Variants

2 papers

NM_001115.3

p.T249S

c.745A>T

1 paper

NM_001115.3

p.T254A

c.760A>G

1 paper

NM_001115.3

p.Y264Y

c.792C>T

1 paper

NM_001115.3

p.D269E

c.807C>G

1 paper

NM_001115.3

p.D269E

c.807C>A

1 paper

NM_001115.3

p.A280T

c.838G>A

1 paper

NM_001115.3

p.G217S

c.649G>A

1 paper

NM_001115.3

p.P286L

c.857C>T

2 papers

NM_001115.3

p.D209E

c.627C>G

2 papers

NM_001115.3

p.D209E

c.627C>A

1 paper

NM_001115.3

p.A206V

c.617C>T

3 papers

NM_001115.3

p.A204S

c.610G>T