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

1–12 of 118 variants

6 papers

NM_001114.5

p.D439E

c.1317C>A

6 papers

NM_001114.5

p.D439E

c.1317C>G

5 papers

NM_001114.5

p.A480V

c.1439C>T

3 papers

NM_001114.5

p.S1020G

c.3058A>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.A122V

c.365C>T

2 papers

NM_001114.5

p.R206Q

c.617G>A

2 papers

NM_001114.5

p.R404W

c.1210C>T

2 papers

NM_001114.5

p.A475T

c.1423G>A

2 papers

NM_001114.5

p.K830*

c.2488A>T

2 papers

NM_001114.5

p.L847P

c.2540T>C