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

2 papers

NM_001114.5

p.K830*

c.2488A>T

Surrounding Variants

1 paper

NM_001114.5

p.H835Q

c.2505C>A

1 paper

NM_001114.5

p.H835Q

c.2505C>G

1 paper

NM_001114.5

p.E836E

c.2508G>A

1 paper

NM_001114.5

p.E837fs

c.2509_2510fs

1 paper

NM_001114.5

p.F838insFs

c.2512dupT

1 paper

NM_001114.5

p.M841T

c.2522T>C

2 papers

NM_001114.5

p.L847P

c.2540T>C

1 paper

NM_001114.5

p.Q816_I817Splc

c.2448+25C>G

1 paper

NM_001114.5

p.I808M

c.2424C>G

1 paper

NM_001114.5

p.T797N

c.2390C>A

1 paper

NM_001114.5

p.Y871_Q873del3

c.2611_2618del9

1 paper

NM_001114.5

p.C877Y

c.2630G>A