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.V418M

c.1252G>A

Surrounding Variants

1 paper

NM_021116.4

p.R412S

c.1234C>A

3 papers

NM_021116.4

p.R412C

c.1234C>T

1 paper

NM_021116.4

p.A432S

c.1294G>T

1 paper

NM_021116.4

p.G436_K437ins7

c.1306_1310ins21

1 paper

NM_021116.4

p.G436E

c.1307G>A

2 papers

NM_021116.4

p.R396C

c.1186C>T

1 paper

NM_021116.4

p.V391M

c.1171G>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.A446V

c.1337C>T

1 paper

NM_021116.4

p.P456R

c.1367C>G

1 paper

NM_021116.4

p.G459R

c.1375G>A