Varaico: Literature-Extracted Genetic Variants

Gene:ADCY9
Variant:p.C435S

ADCY9

148 papers

RefSeq Summary

Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. It is regulated by a family of G protein-coupled receptors, protein kinases, and calcium. The type 9 a...

Pfam Domains

Guanylate_cycaa 385–573UCSCAdenylate and Guanylate cyclase catalytic domain
Guanylate_cycaa 1049–1243UCSCAdenylate and Guanylate cyclase catalytic domain

Gene Aliases

HGNC Name

adenylate cyclase 9

HGNC Alias Symbol

AC9

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001116.4
p.C435S
c.1303T>A
Surrounding Variants
1 paper
NM_001116.4
p.C435S
c.1304G>C
1 paper
NM_001116.4
p.R455Q
c.1364G>A
1 paper
NM_001116.4
p.G466V
c.1397G>T
1 paper
NM_001116.4
p.V401L
c.1201G>C
1 paper
NM_001116.4
p.I470M
c.1410C>G
2 papers
NM_001116.4
p.D399A
c.1196A>C
1 paper
NM_001116.4
p.I473M
c.1419C>G
1 paper
NM_001116.4
p.I390I
c.1170C>T
1 paper
NM_001116.4
p.R383H
c.1148G>A
1 paper
NM_001116.4
p.A381T
c.1141G>A
1 paper
NM_001116.4
p.T492M
c.1475C>T
1 paper
NM_001116.4
p.I375N
c.1124T>A
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