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.Q200L

c.599A>T

Surrounding Variants

2 papers

NM_001114.5

p.R206Q

c.617G>A

1 paper

NM_001114.5

p.L208I

c.622C>A

1 paper

NM_001114.5

p.I224I

c.672C>T

1 paper

NM_001114.5

p.E225K

c.673G>A

1 paper

NM_001114.5

p.R259C

c.775C>T

1 paper

NM_001114.5

p.M262I

c.786G>A

1 paper

NM_001114.5

p.M262I

c.786G>C

1 paper

NM_001114.5

p.M262I

c.786G>T

1 paper

NM_001114.5

p.V272I

c.814G>A

1 paper

NM_001114.5

p.H275Q

c.825C>A

1 paper

NM_001114.5

p.H275Q

c.825C>G

1 paper

NM_001114.5

p.Q179fs

c.535_536fs