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.Y207fs

c.619_620fs

Surrounding Variants

1 paper

NM_002734.5

p.Y207N

c.619T>A

2 papers

NM_002734.5

p.Y207C

c.620A>G

1 paper

NM_002734.5

p.I206T

c.617T>C

2 papers

NM_002734.5

p.G208delFs

c.623delG

2 papers

NM_002734.5

p.Y207delFs

c.619delT

1 paper

NM_002734.5

p.G208R

c.622G>A

1 paper

NM_002734.5

p.G208R

c.622G>C

1 paper

NM_002734.5

p.G208fs

c.622_623fs

1 paper

NM_002734.5

p.G208insFs

c.624dupA

2 papers

NM_002734.5

p.T209A

c.625A>G

1 paper

NM_002734.5

p.L205fs

c.613_614fs

1 paper

NM_002734.5

p.T209I

c.626C>T