Varaico: Literature-Extracted Genetic Variants

Gene:ADCY7
Variant:p.V945A

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.V945A
c.2834T>C
Surrounding Variants
2 papers
NM_001114.5
p.V945I
c.2833G>A
1 paper
NM_001114.5
p.A946T
c.2836G>A
1 paper
NM_001114.5
p.T936M
c.2807C>T
1 paper
NM_001114.5
p.F967V
c.2899T>G
1 paper
NM_001114.5
p.A970T
c.2908G>A
1 paper
NM_001114.5
p.D976H
c.2926G>C
1 paper
NM_001114.5
p.S982Y
c.2945C>A
1 paper
NM_001114.5
p.V990I
c.2968G>A
2 papers
NM_001114.5
p.I998T
c.2993T>C
1 paper
NM_001114.5
p.G1000E
c.2999G>A
1 paper
NM_001114.5
p.A913V
c.2738C>T
1 paper
NM_001114.5
p.R906C
c.2716C>T
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