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.S271L

c.812C>T

Surrounding Variants

1 paper

NM_001116.4

p.S271S

c.813G>A

1 paper

NM_001116.4

p.L277M

c.829C>A

1 paper

NM_001116.4

p.Y261C

c.782A>G

2 papers

NM_001116.4

p.H292Y

c.874C>T

1 paper

NM_001116.4

p.H292D

c.874C>G

1 paper

NM_001116.4

p.V250delFs

c.748delC

1 paper

NM_001116.4

p.V250fs

c.748_749fs

1 paper

NM_001116.4

p.L244L

c.730C>T

1 paper

NM_001116.4

p.L240F

c.720A>T

1 paper

NM_001116.4

p.L240F

c.720A>C

1 paper

NM_001116.4

p.V304M

c.910G>A

1 paper

NM_001116.4

p.Y235S

c.704A>C