Varaico: Literature-Extracted Genetic Variants

PRKAR1A

551 papers

RefSeq Summary

cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation...

Pfam Domains

RIIaaa 25–62UCSCRegulatory subunit of type II PKA R-subunit

cNMP_bindingaa 155–238UCSCCyclic nucleotide-binding domain

cNMP_bindingaa 273–360UCSCCyclic nucleotide-binding domain

Gene Aliases

HGNC Name

protein kinase cAMP-dependent type I regulatory subunit alpha

HGNC Previous Symbols

PRKAR1; TSE1; PKR1; Prkar1alpha

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002734.5

p.R228R

c.682C>A

Surrounding Variants

2 papers

NM_002734.5

p.R228insFs

c.682_683ins22

1 paper

NM_002734.5

p.R228G

c.682C>G

19 papers

NM_002734.5

p.R228*

c.682C>T

3 papers

NM_002734.5

p.R228fs

c.682_683fs

1 paper

NM_002734.5

p.D227V

c.680A>T

1 paper

NM_002734.5

p.R228delFs

c.682delC

5 papers

NM_002734.5

p.D227N

c.679G>A

1 paper

NM_002734.5

p.D227Y

c.679G>T

5 papers

NM_002734.5

p.I226I

c.678C>T

2 papers

NM_002734.5

p.D227delFs

c.679delG

1 paper

NM_002734.5

p.D229E

c.687C>A

1 paper

NM_002734.5

p.D229E

c.687C>G