Varaico: Literature-Extracted Genetic Variants

Gene:PRKACA
Variant:p.C200Y

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.C200Y
c.599G>A
Surrounding Variants
1 paper
NM_002730.4
p.C200_G201insV
c.598_602ins3
1 paper
NM_002730.4
p.C200C
c.600C>T
8 papers
NM_002730.4
p.L199_C200ins0
c.597_599dupGTG
3 papers
NM_002730.4
p.G201D
c.602G>A
5 papers
NM_002730.4
p.L199ins1
c.595_596insCAC
2 papers
NM_002730.4
p.L199_C200insW
c.595_599ins3
1 paper
NM_002730.4
p.T202P
c.604A>C
1 paper
NM_002730.4
p.T198A
c.592A>G
1 paper
NM_002730.4
p.P203S
c.607C>T
1 paper
NM_001304349.2
p.G277_T278del1
c.831_833delGTG
1 paper
NM_002730.4
p.W197S
c.590G>C
1 paper
NM_002730.4
p.W197G
c.589T>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."