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.N1215D

c.3643A>G

Surrounding Variants

1 paper

NM_001115.3

p.R1205M

c.3614G>T

3 papers

NM_001115.3

p.R1227W

c.3679C>T

1 paper

NM_001115.3

p.A1194V

c.3581C>T

1 paper

NM_001115.3

p.D1246N

c.3736G>A

1 paper

NM_001115.3

p.L1181L

c.3543G>A

1 paper

NM_001115.3

p.P1176L

c.3527C>T

1 paper

NM_001115.3

p.G1163E

c.3488G>A

1 paper

NM_001115.3

p.I1153L

c.3457A>C

1 paper

NM_001115.3

p.E1152D

c.3456G>T

1 paper

NM_001115.3

p.E1152D

c.3456G>C

1 paper

NM_001115.3

p.G1151G

c.3453G>A

1 paper

NM_001115.3

p.D1148N

c.3442G>A