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

2 papers

NM_002734.5

p.S199ins1

c.595_596insCAC

Surrounding Variants

1 paper

NM_002734.5

p.S199N

c.596G>A

6 papers

NM_002734.5

p.S199delFs

c.597delC

1 paper

NM_002734.5

p.G198E

c.593G>A

1 paper

NM_002734.5

p.F200fs

c.598_599fs

4 papers

NM_002734.5

p.F200_G201ins1

c.600_601insGTG

1 paper

NM_002734.5

p.G197R

c.589G>A

1 paper

NM_002734.5

p.G197R

c.589G>C

4 papers

NM_002734.5

p.G201E

c.602G>A

1 paper

NM_002734.5

p.E196insFs

c.587_588insGG

1 paper

NM_002734.5

p.E196K

c.586G>A

1 paper

NM_002734.5

p.E202K

c.604G>A

1 paper

NM_002734.5

p.E196insFs

c.587dupA