Varaico: Literature-Extracted Genetic Variants

Gene:ADCY10
Variant:p.L437I

ADCY10

172 papers

RefSeq Summary

The protein encoded by this gene belongs to a distinct class of adenylyl cyclases that is soluble and insensitive to G protein or forskolin regulation. Activity of this protein is regulated by bicarbo...

Pfam Domains

Guanylate_cycaa 37–219UCSCAdenylate and Guanylate cyclase catalytic domain
Guanylate_cycaa 37–219UCSCAdenylate and Guanylate cyclase catalytic domain
Guanylate_cycaa 285–463UCSCAdenylate and Guanylate cyclase catalytic domain
Guanylate_cycaa 285–463UCSCAdenylate and Guanylate cyclase catalytic domain

Gene Aliases

HGNC Name

adenylate cyclase 10

HGNC Alias Symbols

Sacy; SACI; HCA2; RP1-313L4.2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018417.6
p.L437I
c.1309C>A
Surrounding Variants
1 paper
NM_018417.6
p.P438L
c.1313C>T
1 paper
NM_018417.6
p.F441L
c.1321T>C
3 papers
NM_018417.6
p.D428N
c.1282G>A
1 paper
NM_018417.6
p.V449A
c.1346T>C
1 paper
NM_018417.6
p.M450R
c.1349T>G
1 paper
NM_018417.6
p.G452C
c.1354G>T
2 papers
NM_018417.6
p.Y421*
c.1263C>G
2 papers
NM_018417.6
p.Y421*
c.1263C>A
1 paper
NM_018417.6
p.D455V
c.1364A>T
1 paper
NM_018417.6
p.N412delFs
c.1235delT
1 paper
NM_018417.6
p.E467K
c.1399G>A
1 paper
NM_018417.6
p.V406Splc
c.1216+2T>C
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