Varaico: Literature-Extracted Genetic Variants

Gene:ADCY10

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
1–12 of 268 variants
7 papers
NM_018417.6
p.T234M
c.701C>T
4 papers
NM_018417.6
p.E728K
c.2182G>A
4 papers
NM_018417.6
p.N1181S
c.3542A>G
3 papers
NM_018417.6
p.H402fs
c.1204_1205fs
3 papers
NM_018417.6
p.H402delFs
c.1205_1206delGT
3 papers
NM_018417.6
p.D428N
c.1282G>A
3 papers
NM_018417.6
p.I697V
c.2089A>G
3 papers
NM_018417.6
p.G729E
c.2186G>A
3 papers
NM_018417.6
p.H999R
c.2996A>G
3 papers
NM_018417.6
p.L1205_Y1206del2
c.3613_3617del6
2 papers
NM_018417.6
p.M1T
c.2T>C
2 papers
NM_018417.6
p.A81V
c.242C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."