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

1–12 of 238 variants

34 papers

NM_004036.5

p.S107P

c.319T>C

7 papers

NM_004036.5

p.D811Splc

c.2433-1G>A

6 papers

NM_004036.5

p.N64I

c.191A>T

6 papers

NM_004036.5

p.H859_V860Splc

c.2578-1G>A

6 papers

NM_004036.5

p.P1105delFs

c.3315delG

6 papers

NM_004036.5

p.F1118_L1119del1

c.3354_3356delAAG

5 papers

NM_004036.5

p.G423delFs

c.1268delC

4 papers

NM_004036.5

p.G408R

c.1222G>C

4 papers

NM_004036.5

p.G408R

c.1222G>A

4 papers

NM_004036.5

p.H859_V860Splc

c.2578-3T>C

4 papers

NM_004036.5

p.I1106fs

c.3316_3317fs

3 papers

NM_004036.5

p.S186N

c.557G>A