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.S549Splc

c.1646+1G>A

Surrounding Variants

1 paper

NM_183357.3

p.A534V

c.1601C>T

10 papers

NM_183357.3

p.A534T

c.1600G>A

2 papers

NM_183357.3

p.A531D

c.1592C>A

2 papers

NM_183357.3

p.E528K

c.1582G>A

1 paper

NM_183357.3

p.R512C

c.1534C>T

1 paper

NM_183357.3

p.R500C

c.1498C>T

1 paper

NM_183357.3

p.A499T

c.1495G>A

1 paper

NM_183357.3

p.L497delFs

c.1491delG

2 papers

NM_183357.3

p.I475M

c.1425C>G

1 paper

NM_183357.3

p.S469N

c.1406G>A

1 paper

NM_183357.3

p.R552W

c.1654C>T

1 paper

NM_183357.3

p.E553D

c.1659G>T