Varaico: Literature-Extracted Genetic Variants

Gene:PRKACA
Variant:p.D329A

PRKACA

234 papers

RefSeq Summary

This gene encodes one of the catalytic subunits of protein kinase A, which exists as a tetrameric holoenzyme with two regulatory subunits and two catalytic subunits, in its inactive form. cAMP causes ...

Pfam Domains

Pkinaseaa 44–298UCSCProtein kinase domain

Gene Aliases

HGNC Name

protein kinase cAMP-activated catalytic subunit alpha

HGNC Alias Symbol

PKACa

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002730.4
p.D329A
c.986A>C
Surrounding Variants
2 papers
NM_002730.4
p.F328insFs
c.984dupT
2 papers
NM_002730.4
p.F328delFs
c.983_984delAA
1 paper
NM_002730.4
p.T325K
c.974C>A
1 paper
NM_002730.4
p.G323V
c.968G>T
1 paper
NM_002730.4
p.E342V
c.1025A>T
1 paper
NM_002730.4
p.F315Y
c.944T>A
1 paper
NM_002730.4
p.E347Q
c.1039G>C
1 paper
NM_002730.4
p.S349F
c.1046C>T
1 paper
NM_002730.4
p.F351L
c.1051T>C
1 paper
NM_002730.4
p.F351L
c.1053T>G
1 paper
NM_002730.4
p.F351L
c.1053T>A
1 paper
NM_002730.4
p.I306T
c.917T>C
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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."