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.C104C

c.312C>T

Surrounding Variants

1 paper

NM_001115.3

p.C104*

c.312C>A

1 paper

NM_001115.3

p.H101P

c.302A>C

1 paper

NM_001115.3

p.R99Q

c.296G>A

1 paper

NM_001115.3

p.E98Q

c.292G>C

1 paper

NM_001115.3

p.A118D

c.353C>A

1 paper

NM_001115.3

p.S121R

c.363C>G

1 paper

NM_001115.3

p.G122R

c.364G>C

1 paper

NM_001115.3

p.G122R

c.364G>A

1 paper

NM_001115.3

p.S121_G122del0

c.361_366del6

1 paper

NM_001115.3

p.D86Y

c.256G>T

1 paper

NM_001115.3

p.G124R

c.370G>C

1 paper

NM_001115.3

p.G124R

c.370G>A