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.I375N

c.1124T>A

Surrounding Variants

1 paper

NM_001116.4

p.S373P

c.1117T>C

1 paper

NM_001116.4

p.A381T

c.1141G>A

1 paper

NM_001116.4

p.R383H

c.1148G>A

2 papers

NM_001116.4

p.R360R

c.1080G>A

1 paper

NM_001116.4

p.I390I

c.1170C>T

1 paper

NM_001116.4

p.E353K

c.1057G>A

2 papers

NM_001116.4

p.D399A

c.1196A>C

1 paper

NM_001116.4

p.V401L

c.1201G>C

1 paper

NM_001116.4

p.E326D

c.978A>T

1 paper

NM_001116.4

p.E326D

c.978A>C

1 paper

NM_001116.4

p.G320R

c.958G>C

1 paper

NM_001116.4

p.G320R

c.958G>A