Varaico: Literature-Extracted Genetic Variants

ADCY9

148 papers

RefSeq Summary

Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. It is regulated by a family of G protein-coupled receptors, protein kinases, and calcium. The type 9 a...

Pfam Domains

Guanylate_cycaa 385–573UCSCAdenylate and Guanylate cyclase catalytic domain

Guanylate_cycaa 1049–1243UCSCAdenylate and Guanylate cyclase catalytic domain

Gene Aliases

HGNC Name

adenylate cyclase 9

HGNC Alias Symbol

AC9

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

18 papers

NM_001116.4

p.I772M

c.2316A>G

Surrounding Variants

1 paper

NM_001116.4

p.S775F

c.2324C>T

1 paper

NM_001116.4

p.P776_V777insFs

c.2328_2329insC

1 paper

NM_001116.4

p.V777fs

c.2329_2330fs

1 paper

NM_001116.4

p.S782G

c.2344A>G

1 paper

NM_001116.4

p.T795I

c.2384C>T

1 paper

NM_001116.4

p.V797L

c.2389G>T

1 paper

NM_001116.4

p.V797L

c.2389G>C

1 paper

NM_001116.4

p.V842A

c.2525T>C

1 paper

NM_001116.4

p.G869fs

c.2605_2606fs

1 paper

NM_001116.4

p.L875F

c.2623C>T

1 paper

NM_001116.4

p.V880I

c.2638G>A

1 paper

NM_001116.4

p.E887K

c.2659G>A