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.Q433P

c.1298A>C

Surrounding Variants

1 paper

NM_001115.3

p.Q433L

c.1298A>T

1 paper

NM_001115.3

p.E434*

c.1300G>T

1 paper

NM_001115.3

p.L430_L435del6

c.1288_1304del18

1 paper

NM_001115.3

p.F423L

c.1269T>G

1 paper

NM_001115.3

p.F423L

c.1269T>A

1 paper

NM_001115.3

p.F423L

c.1267T>C

1 paper

NM_001115.3

p.A418S

c.1252G>T

1 paper

NM_001115.3

p.A418T

c.1252G>A

2 papers

NM_001115.3

p.R457C

c.1369C>T

1 paper

NM_001115.3

p.R475L

c.1424G>T

2 papers

NM_001115.3

p.R475H

c.1424G>A

1 paper

NM_001115.3

p.R409H

c.1226G>A