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

2 papers

NM_021116.4

p.R34Q

c.101G>A

Surrounding Variants

1 paper

NM_021116.4

p.A35S

c.103G>T

1 paper

NM_021116.4

p.D37V

c.110A>T

1 paper

NM_021116.4

p.R31L

c.92G>T

1 paper

NM_021116.4

p.R30P

c.89G>C

1 paper

NM_021116.4

p.G26G

c.78G>A

1 paper

NM_021116.4

p.L45P

c.134T>C

1 paper

NM_021116.4

p.G16S

c.46G>A

1 paper

NM_021116.4

p.G13D

c.38G>A

1 paper

NM_021116.4

p.E17_L33delFs

c.49_97del49

1 paper

NM_021116.4

p.R6P

c.17G>C

1 paper

NM_021116.4

p.G11_A15ins1

c.32_43dup12

1 paper

NM_021116.4

p.P5L

c.14C>T