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.D121Y

c.361G>T

Surrounding Variants

1 paper

NM_002734.5

p.D121delFs

c.363delT

1 paper

NM_002734.5

p.K120*

c.358A>T

1 paper

NM_002734.5

p.Y122*

c.366C>A

1 paper

NM_002734.5

p.Y122*

c.366C>G

1 paper

NM_002734.5

p.K123*

c.367A>T

1 paper

NM_002734.5

p.I118fs

c.352_353fs

1 paper

NM_002734.5

p.I118L

c.352A>T

1 paper

NM_002734.5

p.M125insFs

c.373_374insT

1 paper

NM_002734.5

p.M125fs

c.373_374fs

5 papers

NM_002734.5

p.V117F

c.349G>T

1 paper

NM_002734.5

p.V117_I118delFs

c.350_353del4

5 papers

NM_002734.5

p.I118_Y122delFs

c.353_365del13