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.E396E

c.1188G>A

Surrounding Variants

1 paper

NM_001115.3

p.M390V

c.1168A>G

1 paper

NM_001115.3

p.R409C

c.1225C>T

1 paper

NM_001115.3

p.R409H

c.1226G>A

1 paper

NM_001115.3

p.V383A

c.1148T>C

1 paper

NM_001115.3

p.V382G

c.1145T>G

1 paper

NM_001115.3

p.R380Q

c.1139G>A

1 paper

NM_001115.3

p.V374E

c.1121T>A

1 paper

NM_001115.3

p.A418S

c.1252G>T

1 paper

NM_001115.3

p.A418T

c.1252G>A

1 paper

NM_001115.3

p.F423L

c.1267T>C

1 paper

NM_001115.3

p.F423L

c.1269T>G

1 paper

NM_001115.3

p.F423L

c.1269T>A