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

1 paper

NM_001116.4

p.S900L

c.2699C>T

Surrounding Variants

1 paper

NM_001116.4

p.A902S

c.2704G>T

1 paper

NM_001116.4

p.A902A

c.2706G>A

2 papers

NM_001116.4

p.S921F

c.2762C>T

1 paper

NM_001116.4

p.L923F

c.2767C>T

1 paper

NM_001116.4

p.G928G

c.2784G>A

1 paper

NM_001116.4

p.A929V

c.2786C>T

1 paper

NM_001116.4

p.C940C

c.2820C>T

1 paper

NM_001116.4

p.S943Splc

c.2828+60G>A

1 paper

NM_001116.4

p.E887K

c.2659G>A

1 paper

NM_001116.4

p.V880I

c.2638G>A

1 paper

NM_001116.4

p.L875F

c.2623C>T

1 paper

NM_001116.4

p.G869fs

c.2605_2606fs