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.R265Q

c.794G>A

Surrounding Variants

1 paper

NM_021116.4

p.R265W

c.793C>T

1 paper

NM_021116.4

p.M268delFs

c.804delG

1 paper

NM_021116.4

p.L270P

c.809T>C

2 papers

NM_021116.4

p.P272S

c.814C>T

1 paper

NM_021116.4

p.R273Q

c.818G>A

1 paper

NM_021116.4

p.R273L

c.818G>T

1 paper

NM_021116.4

p.V275I

c.823G>A

1 paper

NM_021116.4

p.E278K

c.832G>A

1 paper

NM_021116.4

p.H292Y

c.874C>T

1 paper

NM_021116.4

p.D300G

c.899A>G

1 paper

NM_021116.4

p.N301I

c.902A>T

1 paper

NM_021116.4

p.S303Splc

c.908+10G>C