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.R1038Q

c.3113G>A

Surrounding Variants

4 papers

NM_021116.4

p.R1038*

c.3112C>T

1 paper

NM_021116.4

p.R1030R

c.3090G>A

1 paper

NM_021116.4

p.E1048K

c.3142G>A

1 paper

NM_021116.4

p.T1051T

c.3153A>G

1 paper

NM_021116.4

p.V1020G

c.3059T>G

3 papers

NM_021116.4

p.G1062S

c.3184G>A

1 paper

NM_021116.4

p.S1067F

c.3200C>T

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.R1072W

c.3214C>T

1 paper

NM_021116.4

p.M1074T

c.3221T>C

1 paper

NM_021116.4

p.R1086C

c.3256C>T