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.V477E

c.1430T>A

Surrounding Variants

1 paper

NM_021116.4

p.T473N

c.1418C>A

1 paper

NM_021116.4

p.I471V

c.1411A>G

1 paper

NM_021116.4

p.N470S

c.1409A>G

1 paper

NM_021116.4

p.G459R

c.1375G>A

1 paper

NM_021116.4

p.G459R

c.1375G>C

1 paper

NM_021116.4

p.P456R

c.1367C>G

1 paper

NM_021116.4

p.A446V

c.1337C>T

1 paper

NM_021116.4

p.F485Y

c.1454T>A

1 paper

NM_021116.4

p.L488L

c.1462C>T

1 paper

NM_021116.4

p.T503A

c.1507A>G

1 paper

NM_021116.4

p.R515Q

c.1544G>A

1 paper

NM_021116.4

p.K535_R536Splc

c.1605+10G>A