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.S39L

c.116C>T

Surrounding Variants

1 paper

NM_004036.5

p.R34R

c.102G>A

1 paper

NM_004036.5

p.V22D

c.65T>A

1 paper

NM_004036.5

p.E19K

c.55G>A

1 paper

NM_004036.5

p.Y16F

c.47A>T

1 paper

NM_004036.5

p.E63Q

c.187G>C

1 paper

NM_004036.5

p.N64Y

c.190A>T

6 papers

NM_004036.5

p.N64I

c.191A>T

1 paper

NM_004036.5

p.Y12H

c.34T>C

1 paper

NM_004036.5

p.R72delFs

c.214delT

1 paper

NM_004036.5

p.E76K

c.226G>A

1 paper

NM_004036.5

p.A86fs

c.256_257fs

1 paper

NM_004036.5

p.A86D

c.257C>A