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.Q370E

c.1108C>G

Surrounding Variants

1 paper

NM_001115.3

p.L361_E366del6

c.1081_1097del18

1 paper

NM_001115.3

p.E364A

c.1091A>C

1 paper

NM_001115.3

p.A359G

c.1076C>G

1 paper

NM_001115.3

p.E352D

c.1056G>T

1 paper

NM_001115.3

p.E352D

c.1056G>C

1 paper

NM_001115.3

p.A349V

c.1046C>T

1 paper

NM_001115.3

p.R347P

c.1040G>C

1 paper

NM_001115.3

p.R347H

c.1040G>A

1 paper

NM_001115.3

p.R344Q

c.1031G>A

1 paper

NM_001115.3

p.L341P

c.1022T>C

1 paper

NM_001115.3

p.G335V

c.1004G>T

1 paper

NM_001115.3

p.G335E

c.1004G>A