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.D1060E

c.3180T>A

Surrounding Variants

1 paper

NM_183357.3

p.D1060E

c.3180T>G

2 papers

NM_183357.3

p.D1060del1

c.3178_3179delATC

1 paper

NM_183357.3

p.R1058H

c.3173G>A

1 paper

NM_183357.3

p.R1058C

c.3172C>T

1 paper

NM_183357.3

p.R1055C

c.3163C>T

1 paper

NM_183357.3

p.C1069Y

c.3206G>A

1 paper

NM_001199642.1

p.H701Y

c.2101C>T

1 paper

NM_183357.3

p.A1050T

c.3148G>A

1 paper

NM_183357.3

p.D1047N

c.3139G>A

1 paper

NM_001378259.1

p.P1070H

c.3209C>A

1 paper

NM_183357.3

p.E1030_R1038del9

c.3088_3113del27

4 papers

NM_183357.3

p.M1029R

c.3086T>G