Varaico: Literature-Extracted Genetic Variants

Gene:PRKACA
Variant:p.K48R

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.K48R
c.143A>G
Surrounding Variants
2 papers
NM_002730.4
p.T49I
c.146C>T
1 paper
NM_002730.4
p.T52M
c.155C>T
1 paper
NM_002730.4
p.S54F
c.161C>T
1 paper
NM_002730.4
p.F55V
c.163T>G
1 paper
NM_002730.4
p.G56A
c.167G>C
1 paper
NM_002730.4
p.H40Y
c.118C>T
1 paper
NM_002730.4
p.H63D
c.187C>G
1 paper
NM_002730.4
p.D76N
c.226G>A
1 paper
NM_002730.4
p.D76D
c.228C>T
1 paper
NM_002730.4
p.K77insFs
c.231dupA
2 papers
NM_002730.4
p.D76_K77ins0
c.226_231dup6
1 paper
NM_002730.4
p.P34L
c.101C>T
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