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

1 paper

NM_001115.3

p.Q34H

c.102G>C

Surrounding Variants

1 paper

NM_001115.3

p.Q34H

c.102G>T

1 paper

NM_001115.3

p.P33P

c.99G>A

1 paper

NM_001115.3

p.G25fs

c.73_74fs

1 paper

NM_001115.3

p.A24insFs

c.71_72insGG

1 paper

NM_001115.3

p.P23L

c.68C>T

1 paper

NM_001115.3

p.H52R

c.155A>G

1 paper

NM_001115.3

p.Y16H

c.46T>C

1 paper

NM_001115.3

p.E14K

c.40G>A

1 paper

NM_001115.3

p.S58G

c.172A>G

1 paper

NM_001115.3

p.M1K

c.2T>A

1 paper

NM_001115.3

p.D70V

c.209A>T

1 paper

NM_001115.3

p.P71_A72insGG

c.211_215ins6