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.R255K

c.764G>A

Surrounding Variants

1 paper

NM_021116.4

p.C249G

c.745T>G

1 paper

NM_021116.4

p.Q245*

c.733C>T

1 paper

NM_021116.4

p.L244L

c.730C>T

1 paper

NM_021116.4

p.V222I

c.664G>A

1 paper

NM_021116.4

p.F221F

c.663C>T

1 paper

NM_021116.4

p.G215A

c.644G>C

1 paper

NM_021116.4

p.T213_L214Splc

c.640-10C>G