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.K1105K

c.3315A>G

Surrounding Variants

1 paper

NM_001115.3

p.P1106L

c.3317C>T

1 paper

NM_001115.3

p.G1102S

c.3304G>A

1 paper

NM_001115.3

p.V1100I

c.3298G>A

1 paper

NM_001115.3

p.A1098V

c.3293C>T

1 paper

NM_001115.3

p.L1117V

c.3349C>G

1 paper

NM_001115.3

p.S1092R

c.3276C>G

1 paper

NM_001115.3

p.S1092R

c.3276C>A

1 paper

NM_001115.3

p.S1092R

c.3274A>C

1 paper

NM_001115.3

p.R1120*

c.3358C>T

1 paper

NM_001115.3

p.M1121I

c.3363G>T

1 paper

NM_001115.3

p.M1121I

c.3363G>C

1 paper

NM_001115.3

p.M1121I

c.3363G>A