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

1–12 of 205 variants

3 papers

NM_001115.3

p.A204S

c.610G>T

3 papers

NM_001115.3

p.R968Q

c.2903G>A

3 papers

NM_001115.3

p.R1227W

c.3679C>T

2 papers

NM_001115.3

p.D209E

c.627C>G

2 papers

NM_001115.3

p.D209E

c.627C>A

2 papers

NM_001115.3

p.T249S

c.745A>T

2 papers

NM_001115.3

p.T249S

c.746C>G

2 papers

NM_001115.3

p.L327L

c.979C>T

2 papers

NM_001115.3

p.E396E

c.1188G>A

2 papers

NM_001115.3

p.Q433P

c.1298A>C

2 papers

NM_001115.3

p.R457C

c.1369C>T

2 papers

NM_001115.3

p.R475H

c.1424G>A