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.S102C

c.304A>T

Surrounding Variants

1 paper

NM_004036.5

p.S101C

c.302C>G

1 paper

NM_004036.5

p.D103N

c.307G>A

34 papers

NM_004036.5

p.S107P

c.319T>C

1 paper

NM_004036.5

p.V110M

c.328G>A

2 papers

NM_004036.5

p.L117M

c.349T>A

1 paper

NM_004036.5

p.A86D

c.257C>A

1 paper

NM_004036.5

p.A86fs

c.256_257fs

1 paper

NM_004036.5

p.D118G

c.353A>G

1 paper

NM_004036.5

p.I120L

c.358A>C

2 papers

NM_004036.5

p.L121P

c.362T>C

1 paper

NM_004036.5

p.C125F

c.374G>T

1 paper

NM_004036.5

p.C125Y

c.374G>A