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.R438fs

c.1312_1313fs

Surrounding Variants

1 paper

NM_183357.3

p.R438insFs

c.1312dupC

10 papers

NM_183357.3

p.R438P

c.1313G>C

5 papers

NM_183357.3

p.A441V

c.1322C>T

1 paper

NM_183357.3

p.Q428_E429Splc

c.1285-6C>T

1 paper

NM_183357.3

p.H458Y

c.1372C>T

7 papers

NM_183357.3

p.I460F

c.1378A>T

5 papers

NM_183357.3

p.N467S

c.1400A>G

1 paper

NM_183357.3

p.S469N

c.1406G>A

1 paper

NM_183357.3

p.Q428H

c.1284G>T

1 paper

NM_183357.3

p.Q428H

c.1284G>C

1 paper

NM_183357.3

p.L419F

c.1255C>T

33 papers

NM_183357.3

p.R418Q

c.1253G>A