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.V1089E

c.3266T>A

Surrounding Variants

1 paper

NM_021116.4

p.P1088S

c.3262C>T

1 paper

NM_021116.4

p.R1086C

c.3256C>T

1 paper

NM_021116.4

p.P1093_G1094insFs

c.3279_3280insC

1 paper

NM_021116.4

p.R1098K

c.3293G>A

1 paper

NM_021116.4

p.P1103L

c.3308C>T

1 paper

NM_021116.4

p.M1074T

c.3221T>C

1 paper

NM_021116.4

p.R1072W

c.3214C>T

1 paper

NM_021116.4

p.G1107S

c.3319G>A

1 paper

NM_021116.4

p.L1070F

c.3210G>C

1 paper

NM_021116.4

p.L1070F

c.3210G>T

1 paper

NM_021116.4

p.S1067F

c.3200C>T

3 papers

NM_021116.4

p.G1062S

c.3184G>A