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

5 papers

NM_004036.5

p.G423delFs

c.1268delC

Surrounding Variants

2 papers

NM_004036.5

p.G423fs

c.1267_1268fs

3 papers

NM_004036.5

p.G423fs

c.1267_1268fs

1 paper

NM_004036.5

p.G426C

c.1276G>T

1 paper

NM_004036.5

p.V415V

c.1245G>A

1 paper

NM_004036.5

p.D433N

c.1297G>A

1 paper

NM_004036.5

p.D410G

c.1229A>G

4 papers

NM_004036.5

p.G408R

c.1222G>C

4 papers

NM_004036.5

p.G408R

c.1222G>A

1 paper

NM_004036.5

p.K406R

c.1217A>G

1 paper

NM_004036.5

p.E403delFs

c.1209delC

1 paper

NM_004036.5

p.R402W

c.1204C>T

1 paper

NM_004036.5

p.A447T

c.1339G>A