Varaico: Literature-Extracted Genetic Variants

ADCY3

206 papers

RefSeq Summary

This gene encodes adenylyl cyclase 3 which is a membrane-associated enzyme and catalyzes the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). This protein appears to be wide...

Pfam Domains

AC_Naa 24–306UCSCAdenylyl cyclase N-terminal extracellular and transmembrane region

Guanylate_cycaa 310–494UCSCAdenylate and Guanylate cyclase catalytic domain

Guanylate_cycaa 914–1121UCSCAdenylate and Guanylate cyclase catalytic domain

Gene Aliases

HGNC Name

adenylate cyclase 3

HGNC Alias Symbol

AC3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004036.5

p.T918M

c.2753C>T

Surrounding Variants

1 paper

NM_004036.5

p.T918T

c.2754G>A

1 paper

NM_004036.5

p.E939D

c.2817G>T

1 paper

NM_004036.5

p.E939D

c.2817G>C

1 paper

NM_004036.5

p.C948Y

c.2843G>A

1 paper

NM_004036.5

p.S957L

c.2870C>T

2 papers

NM_004036.5

p.S957S

c.2871A>G

1 paper

NM_004036.5

p.S961_L962Splc

c.2883+1G>C

1 paper

NM_004036.5

p.S961_L962Splc

c.2883+214A>G

1 paper

NM_004036.5

p.R969Q

c.2906G>A

1 paper

NM_004036.5

p.V970V

c.2910G>A

1 paper

NM_004036.5

p.T980M

c.2939C>T

1 paper

NM_004036.5

p.A983A

c.2949G>A