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.E619K

c.1855G>A

Surrounding Variants

1 paper

NM_183357.3

p.L632fs

c.1894_1895fs

6 papers

NM_183357.3

p.E634D

c.1902G>T

6 papers

NM_183357.3

p.E634D

c.1902G>C

9 papers

NM_183357.3

p.R603C

c.1807C>T

1 paper

NM_183357.3

p.R649Q

c.1946G>A

1 paper

NM_001199642.1

p.R299_K300Splc

c.897+1G>T

1 paper

NM_183357.3

p.R649_K650Splc

c.1947+239C>T

3 papers

NM_183357.3

p.G599S

c.1795G>A

1 paper

NM_183357.3

p.M595I

c.1785G>A

7 papers

NM_183357.3

p.D588N

c.1762G>A

1 paper

NM_183357.3

p.F582L

c.1746C>G

1 paper

NM_183357.3

p.F582L

c.1746C>A