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.G82D

c.245G>A

Surrounding Variants

1 paper

NM_021116.4

p.A83V

c.248C>T

1 paper

NM_021116.4

p.G85E

c.254G>A

1 paper

NM_021116.4

p.G89C

c.265G>T

1 paper

NM_021116.4

p.L90L

c.270G>A

1 paper

NM_021116.4

p.A91V

c.272C>T

1 paper

NM_021116.4

p.H98H

c.294C>T

1 paper

NM_021116.4

p.V116V

c.348G>A

1 paper

NM_021116.4

p.L45P

c.134T>C

1 paper

NM_021116.4

p.D37V

c.110A>T

1 paper

NM_021116.4

p.A35S

c.103G>T

2 papers

NM_021116.4

p.R34Q

c.101G>A

1 paper

NM_021116.4

p.R31L

c.92G>T