Varaico: Literature-Extracted Genetic Variants

ADCY7

128 papers

RefSeq Summary

This gene encodes a membrane-bound adenylate cyclase that catalyses the formation of cyclic AMP from ATP and is inhibitable by calcium. The product of this gene is a member of the adenylyl cyclase cla...

Pfam Domains

AC_Naa 15–256UCSCAdenylyl cyclase N-terminal extracellular and transmembrane region

Guanylate_cycaa 270–453UCSCAdenylate and Guanylate cyclase catalytic domain

Adcy_cons_domaa 485–593UCSCAdenylate cyclase, conserved domain

Guanylate_cycaa 870–1069UCSCAdenylate and Guanylate cyclase catalytic domain

Gene Aliases

HGNC Name

adenylate cyclase 7

HGNC Alias Symbols

KIAA0037; AC7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001114.5

p.G433R

c.1297G>A

Surrounding Variants

1 paper

NM_001114.5

p.G433R

c.1297G>C

1 paper

NM_001114.5

p.E431K

c.1291G>A

1 paper

NM_001114.5

p.A427A

c.1281G>A

6 papers

NM_001114.5

p.D439E

c.1317C>A

6 papers

NM_001114.5

p.D439E

c.1317C>G

1 paper

NM_001114.5

p.D454N

c.1360G>A

1 paper

NM_001114.5

p.A407T

c.1219G>A

2 papers

NM_001114.5

p.R404W

c.1210C>T

1 paper

NM_001114.5

p.D398D

c.1194C>T

1 paper

NM_001114.5

p.W395*

c.1184G>A

1 paper

NM_001114.5

p.I375M

c.1125A>G

1 paper

NM_001114.5

p.G374D

c.1121G>A