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.E659K

c.1975G>A

Surrounding Variants

1 paper

NM_001114.5

p.L667L

c.2001G>A

1 paper

NM_001114.5

p.A672A

c.2016C>T

1 paper

NM_001114.5

p.T618T

c.1854G>A

1 paper

NM_001114.5

p.R617Splc

c.1851-6C>G

1 paper

NM_001114.5

p.V699A

c.2096T>C

1 paper

NM_001114.5

p.S601N

c.1802G>A

1 paper

NM_001114.5

p.A600V

c.1799C>T

1 paper

NM_001114.5

p.I590T

c.1769T>C

1 paper

NM_001114.5

p.A588V

c.1763C>T

1 paper

NM_001114.5

p.L752L

c.2254C>T

1 paper

NM_001114.5

p.L761L

c.2283C>T

1 paper

NM_001114.5

p.W765R

c.2293T>A