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.L327L

c.979C>T

Surrounding Variants

1 paper

NM_001115.3

p.M329I

c.987G>T

1 paper

NM_001115.3

p.M329I

c.987G>C

1 paper

NM_001115.3

p.M329I

c.987G>A

1 paper

NM_001115.3

p.M331I

c.993G>T

1 paper

NM_001115.3

p.M331I

c.993G>C

1 paper

NM_001115.3

p.M331I

c.993G>A

1 paper

NM_001115.3

p.G335V

c.1004G>T

1 paper

NM_001115.3

p.G335E

c.1004G>A

1 paper

NM_001115.3

p.L341P

c.1022T>C

1 paper

NM_001115.3

p.R344Q

c.1031G>A

1 paper

NM_001115.3

p.R347P

c.1040G>C

1 paper

NM_001115.3

p.R347H

c.1040G>A