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.L928L

c.2784T>C

Surrounding Variants

1 paper

NM_001115.3

p.R924L

c.2771G>T

1 paper

NM_001115.3

p.M940I

c.2820G>T

1 paper

NM_001115.3

p.M940I

c.2820G>C

1 paper

NM_001115.3

p.M940I

c.2820G>A

3 papers

NM_001115.3

p.R968Q

c.2903G>A

1 paper

NM_001115.3

p.E899V

c.2696A>T