Varaico: Literature-Extracted Genetic Variants

Gene:PRKACA

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
1–12 of 126 variants
73 papers
NM_002730.4
p.L206R
c.617T>G
13 papers
NM_002730.4
p.H295R
c.884A>G
11 papers
NM_002730.4
p.G137R
c.409G>A
10 papers
NM_002730.4
p.G137R
c.409G>C
9 papers
NM_002730.4
p.S213R
c.639C>G
8 papers
NM_002730.4
p.E32V
c.95A>T
8 papers
NM_002730.4
p.W197R
c.589T>C
8 papers
NM_002730.4
p.W197R
c.589T>A
8 papers
NM_002730.4
p.L199_C200ins0
c.597_599dupGTG
8 papers
NM_002730.4
p.S213R
c.637A>C
8 papers
NM_002730.4
p.S213R
c.639C>A
5 papers
NM_002730.4
p.M1V
c.1A>G
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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."