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

Selected Variant

2 papers

NM_021116.4

p.E596K

c.1786G>A

Surrounding Variants

1 paper

NM_021116.4

p.E596G

c.1787A>G

5 papers

NM_021116.4

p.R597W

c.1789C>T

1 paper

NM_021116.4

p.K600_Y601Splc

c.1800+3A>G

1 paper

NM_021116.4

p.D584Y

c.1750G>T

1 paper

NM_021116.4

p.E579K

c.1735G>A

1 paper

NM_021116.4

p.L572_L573del0

c.1714_1719del6

1 paper

NM_021116.4

p.R571H

c.1712G>A

1 paper

NM_021116.4

p.R564H

c.1691G>A

1 paper

NM_021116.4

p.G562S

c.1684G>A

1 paper

NM_021116.4

p.P561P

c.1683G>A

1 paper

NM_021116.4

p.P561Q

c.1682C>A

1 paper

NM_021116.4

p.V557L

c.1669G>C