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.R695G

c.2083C>G

Surrounding Variants

1 paper

NM_183357.3

p.R695W

c.2083C>T

1 paper

NM_183357.3

p.M696K

c.2087T>A

3 papers

NM_183357.3

p.M696_G697Splc

c.2088+1G>T

17 papers

NM_183357.3

p.M696_G697Splc

c.2088+1G>A

8 papers

NM_183357.3

p.K694_M696del0

c.2080_2088del9

2 papers

NM_183357.3

p.M696_G697Splc

c.2088+2T>G

5 papers

NM_183357.3

p.K691E

c.2071A>G

1 paper

NM_183357.3

p.H683delFs

c.2047delG

1 paper

NM_183357.3

p.H683fs

c.2047_2048fs

1 paper

NM_183357.3

p.P679_F680delFs

c.2037_2038delAG

2 papers

NM_183357.3

p.R678H

c.2033G>A

2 papers

NM_183357.3

p.A676delFs

c.2026delC