Varaico: Literature-Extracted Genetic Variants

Gene:ADCY10
Variant:p.L1136I

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.L1136I
c.3406C>A
Surrounding Variants
1 paper
NM_018417.6
p.A1131P
c.3391G>C
1 paper
NM_018417.6
p.E1139_V1140Splc
c.3417+31T>C
1 paper
NM_018417.6
p.T1117insFs
c.3350_3351insA
1 paper
NM_018417.6
p.M1106delFs
c.3317delA
2 papers
NM_018417.6
p.V1140F
c.3418G>T
1 paper
NM_018417.6
p.V1140A
c.3419T>C
2 papers
NM_018417.6
p.A1150P
c.3448G>C
1 paper
NM_018417.6
p.L1154V
c.3460C>G
1 paper
NM_018417.6
p.A1157V
c.3470C>T
1 paper
NM_018417.6
p.L1172L
c.3516G>A
4 papers
NM_018417.6
p.N1181S
c.3542A>G
1 paper
NM_018417.6
p.M1103I
c.3309G>T
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