Varaico: Literature-Extracted Genetic Variants

Gene:PRKACA
Variant:p.R135Q

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.R135Q
c.404G>A
Surrounding Variants
10 papers
NM_002730.4
p.G137R
c.409G>C
11 papers
NM_002730.4
p.G137R
c.409G>A
1 paper
NM_002730.4
p.F139fs
c.415_416fs
1 paper
NM_002730.4
p.V124delFs
c.371_372delCA
1 paper
NM_002730.4
p.N114Y
c.340A>T
1 paper
NM_002730.4
p.S140Splc
c.419+732G>T
1 paper
NM_002730.4
p.V105I
c.313G>A
2 papers
NM_002730.4
p.L104R
c.311T>G
2 papers
NM_002730.4
p.H88Y
c.262C>T
5 papers
NM_002730.4
p.H88D
c.262C>G
1 paper
NM_002730.4
p.H88N
c.262C>A
1 paper
NM_002730.4
p.K82_L83del0
c.244_249del6
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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."