Varaico: Literature-Extracted Genetic Variants

Gene:ADCY10
Variant:p.H999R

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
3 papers
NM_018417.6
p.H999R
c.2996A>G
Surrounding Variants
1 paper
NM_018417.6
p.G1000E
c.2999G>A
1 paper
NM_018417.6
p.H977P
c.2930A>C
1 paper
NM_018417.6
p.R968*
c.2902C>T
1 paper
NM_018417.6
p.H962H
c.2886C>T
1 paper
NM_018417.6
p.R955C
c.2863C>T
1 paper
NM_018417.6
p.A948V
c.2843C>T
1 paper
NM_018417.6
p.R927Q
c.2780G>A
1 paper
NM_018417.6
p.Q912delFs
c.2734delG
1 paper
NM_018417.6
p.H907R
c.2720A>G
1 paper
NM_018417.6
p.P901S
c.2701C>T
1 paper
NM_018417.6
p.Q885P
c.2654A>C
1 paper
NM_018417.6
p.R874L
c.2621G>T
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