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.L202*

c.605T>A

Surrounding Variants

1 paper

NM_021116.4

p.A200T

c.598G>A

1 paper

NM_021116.4

p.S194L

c.581C>T

1 paper

NM_021116.4

p.T213A

c.637A>G

1 paper

NM_021116.4

p.T213_L214Splc

c.639+1G>A

1 paper

NM_021116.4

p.S181R

c.543C>A

1 paper

NM_021116.4

p.S181R

c.543C>G

1 paper

NM_021116.4

p.S181R

c.541A>C

1 paper

NM_021116.4

p.V179L

c.535G>C

1 paper

NM_021116.4

p.V179L

c.535G>T

1 paper

NM_021116.4

p.F171F

c.513C>T

1 paper

NM_021116.4

p.G162E

c.485G>A

1 paper

NM_021116.4

p.A159T

c.475G>A