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

1 paper

NM_021116.4

p.G758R

c.2272G>A

Surrounding Variants

1 paper

NM_021116.4

p.G758R

c.2272G>C

1 paper

NM_021116.4

p.L755Q

c.2264T>A

2 papers

NM_021116.4

p.T761M

c.2282C>T

1 paper

NM_021116.4

p.I754delFs

c.2260delA

1 paper

NM_021116.4

p.V766I

c.2296G>A

1 paper

NM_021116.4

p.L767Q

c.2300T>A

1 paper

NM_021116.4

p.G771R

c.2311G>A

1 paper

NM_021116.4

p.G771R

c.2311G>C

1 paper

NM_021116.4

p.A742D

c.2225C>A

1 paper

NM_021116.4

p.R774K

c.2321G>A

1 paper

NM_021116.4

p.L722Q

c.2165T>A

1 paper

NM_021116.4

p.L722L

c.2164C>T