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

4 papers

NM_004036.5

p.I1106fs

c.3316_3317fs

Surrounding Variants

6 papers

NM_004036.5

p.P1105delFs

c.3315delG

1 paper

NM_004036.5

p.P1105L

c.3314C>T

1 paper

NM_004036.5

p.I1106delFs

c.3318delG

1 paper

NM_004036.5

p.R1103*

c.3307C>T

3 papers

NM_004036.5

p.G1110R

c.3328G>C

3 papers

NM_004036.5

p.G1110R

c.3328G>A

1 paper

NM_004036.5

p.R1094*

c.3280C>T

2 papers

NM_004036.5

p.L1119S

c.3356T>C

6 papers

NM_004036.5

p.F1118_L1119del1

c.3354_3356delAAG

1 paper

NM_004036.5

p.A1126S

c.3376G>T

1 paper

NM_004036.5

p.T1127S

c.3379A>T

1 paper

NM_004036.5

p.T1127S

c.3380C>G