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.A95T

c.283G>A

Surrounding Variants

1 paper

NM_001114.5

p.A106A

c.318G>A

1 paper

NM_001114.5

p.G108fs

c.322_323fs

1 paper

NM_001114.5

p.F113F

c.339C>T

1 paper

NM_001114.5

p.A74V

c.221C>T

1 paper

NM_001114.5

p.A120T

c.358G>A

1 paper

NM_001114.5

p.A69V

c.206C>T

2 papers

NM_001114.5

p.A122V

c.365C>T

1 paper

NM_001114.5

p.A122A

c.366G>A

1 paper

NM_001114.5

p.G67A

c.200G>C

1 paper

NM_001114.5

p.D58G

c.173A>G

1 paper

NM_001114.5

p.F128I

c.382T>A

1 paper

NM_001114.5

p.A147T

c.439G>A