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.G1000E

c.2999G>A

Surrounding Variants

2 papers

NM_001114.5

p.I998T

c.2993T>C

1 paper

NM_001114.5

p.A1019V

c.3056C>T

3 papers

NM_001114.5

p.S1020G

c.3058A>G

1 paper

NM_001114.5

p.K1030E

c.3088A>G

3 papers

NM_001114.5

p.G1045R

c.3133G>A

3 papers

NM_001114.5

p.G1045R

c.3133G>C

2 papers

NM_001114.5

p.*1081R

c.3241T>A

1 paper

NM_001114.5

p.*1081R

c.3241T>C

1 paper

NM_001114.5

p.V990I

c.2968G>A

1 paper

NM_001114.5

p.S982Y

c.2945C>A

1 paper

NM_001114.5

p.D976H

c.2926G>C

1 paper

NM_001114.5

p.A970T

c.2908G>A