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.A80T

c.238G>A

Surrounding Variants

1 paper

NM_001115.3

p.H78D

c.232C>G

1 paper

NM_001115.3

p.N77H

c.229A>C

1 paper

NM_001115.3

p.D86Y

c.256G>T

1 paper

NM_001115.3

p.G74S

c.220G>A

1 paper

NM_001115.3

p.P71_A72insGG

c.211_215ins6

1 paper

NM_001115.3

p.D70V

c.209A>T

1 paper

NM_001115.3

p.E98Q

c.292G>C

1 paper

NM_001115.3

p.R99Q

c.296G>A

1 paper

NM_001115.3

p.H101P

c.302A>C

1 paper

NM_001115.3

p.S58G

c.172A>G

1 paper

NM_001115.3

p.C104C

c.312C>T

1 paper

NM_001115.3

p.C104*

c.312C>A