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

2 papers

NM_183357.3

p.A706V

c.2117C>T

Surrounding Variants

1 paper

NM_183357.3

p.A706S

c.2116G>T

1 paper

NM_183357.3

p.A706T

c.2116G>A

1 paper

NM_183357.3

p.E708Q

c.2122G>C

1 paper

NM_183357.3

p.F719I

c.2155T>A

9 papers

NM_183357.3

p.L720P

c.2159T>C

1 paper

NM_183357.3

p.R722C

c.2164C>T

2 papers

NM_183357.3

p.R722H

c.2165G>A

31 papers

NM_183357.3

p.A726T

c.2176G>A

1 paper

NM_183357.3

p.A726V

c.2177C>T

1 paper

NM_183357.3

p.R727G

c.2179A>G

8 papers

NM_183357.3

p.R727K

c.2180G>A

2 papers

NM_183357.3

p.S728N

c.2183G>A