Varaico: Literature-Extracted Genetic Variants

ADCY1

185 papers

RefSeq Summary

This gene encodes a member of the of adenylate cyclase gene family that is primarily expressed in the brain. This protein is regulated by calcium/calmodulin concentration and may be involved in brain ...

Pfam Domains

AC_Naa 1–67UCSCAdenylyl cyclase N-terminal extracellular and transmembrane region

AC_Naa 34–292UCSCAdenylyl cyclase N-terminal extracellular and transmembrane region

Guanylate_cycaa 294–478UCSCAdenylate and Guanylate cyclase catalytic domain

Guanylate_cycaa 859–1056UCSCAdenylate and Guanylate cyclase catalytic domain

Gene Aliases

HGNC Name

adenylate cyclase 1

HGNC Previous Symbol

DFNB44

Papers

RefSeq ID

Protein change

DNA change

1–12 of 226 variants

5 papers

NM_021116.4

p.R597W

c.1789C>T

4 papers

NM_021116.4

p.R1038*

c.3112C>T

3 papers

NM_021116.4

p.R412C

c.1234C>T

3 papers

NM_021116.4

p.G1062S

c.3184G>A

2 papers

NM_021116.4

p.R34Q

c.101G>A

2 papers

NM_021116.4

p.R255K

c.764G>A

2 papers

NM_021116.4

p.R265Q

c.794G>A

2 papers

NM_021116.4

p.P272S

c.814C>T

2 papers

NM_021116.4

p.R345H

c.1034G>A

2 papers

NM_021116.4

p.R396C

c.1186C>T

2 papers

NM_021116.4

p.E596K

c.1786G>A

2 papers

NM_021116.4

p.T761M

c.2282C>T