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

66 papers

NM_183357.3

p.R418W

c.1252C>T

Surrounding Variants

13 papers

NM_183357.3

p.R418G

c.1252C>G

33 papers

NM_183357.3

p.R418Q

c.1253G>A

1 paper

NM_183357.3

p.A417A

c.1251G>A

1 paper

NM_183357.3

p.L419F

c.1255C>T

1 paper

NM_183357.3

p.E413D

c.1239G>T

1 paper

NM_183357.3

p.E413*

c.1237G>T

2 papers

NM_183357.3

p.R412L

c.1235G>T

1 paper

NM_183357.3

p.R412*

c.1234C>T

1 paper

NM_183357.3

p.Q428H

c.1284G>T

1 paper

NM_183357.3

p.Q428H

c.1284G>C

4 papers

NM_183357.3

p.P399L

c.1196C>T

1 paper

NM_183357.3

p.Y398*

c.1194T>G