Varaico: Literature-Extracted Genetic Variants

ADCY5

292 papers

RefSeq Summary

This gene encodes a member of the membrane-bound adenylyl cyclase enzymes. Adenylyl cyclases mediate G protein-coupled receptor signaling through the synthesis of the second messenger cAMP. Activity o...

Pfam Domains

AC_Naa 1–458UCSCAdenylyl cyclase N-terminal extracellular and transmembrane region

Guanylate_cycaa 460–643UCSCAdenylate and Guanylate cyclase catalytic domain

Adcy_cons_domaa 668–761UCSCAdenylate cyclase, conserved domain

Guanylate_cycaa 1087–1281UCSCAdenylate and Guanylate cyclase catalytic domain

Gene Aliases

HGNC Name

adenylate cyclase 5

HGNC Alias Symbol

AC5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_183357.3

p.F582L

c.1746C>G

Surrounding Variants

1 paper

NM_183357.3

p.F582L

c.1746C>A

1 paper

NM_183357.3

p.F582L

c.1744T>C

7 papers

NM_183357.3

p.D588N

c.1762G>A

1 paper

NM_183357.3

p.V570insFs

c.1708_1709insC

1 paper

NM_183357.3

p.M595I

c.1785G>A

1 paper

NM_183357.3

p.R569*

c.1705C>T

3 papers

NM_183357.3

p.G599S

c.1795G>A

1 paper

NM_183357.3

p.G564E

c.1691G>A

1 paper

NM_183357.3

p.G564R

c.1690G>C

1 paper

NM_183357.3

p.G564R

c.1690G>A

1 paper

NM_183357.3

p.T555_G556delFs

c.1665_1666delCT

1 paper

NM_183357.3

p.E553D

c.1659G>T