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.K364N

c.1092G>T

Surrounding Variants

1 paper

NM_021116.4

p.K364N

c.1092G>C

1 paper

NM_021116.4

p.K364R

c.1091A>G

1 paper

NM_021116.4

p.H369Y

c.1105C>T

1 paper

NM_021116.4

p.G359A

c.1076G>C

1 paper

NM_021116.4

p.D377N

c.1129G>A

1 paper

NM_021116.4

p.R346H

c.1037G>A

2 papers

NM_021116.4

p.R345H

c.1034G>A

1 paper

NM_021116.4

p.E341E

c.1023G>A

1 paper

NM_021116.4

p.E387D

c.1161A>C

1 paper

NM_021116.4

p.E387D

c.1161A>T

1 paper

NM_021116.4

p.V391M

c.1171G>A

2 papers

NM_021116.4

p.R396C

c.1186C>T