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.K218N

c.654G>C

Surrounding Variants

1 paper

NM_002734.5

p.T219_N220ins10

c.655_659ins30

1 paper

NM_002734.5

p.N220delFs

c.658_659delAA

2 papers

NM_002734.5

p.N220_V221del2

c.658_662del6

1 paper

NM_002734.5

p.K218delFs

c.652_653delAA

1 paper

NM_002734.5

p.A217T

c.649G>A

2 papers

NM_002734.5

p.K222*

c.664A>T

1 paper

NM_002734.5

p.V215F

c.643G>T

2 papers

NM_002734.5

p.T214insFs

c.642dupT

1 paper

NM_002734.5

p.L223_W224delFs

c.669_670delGT

1 paper

NM_002734.5

p.T214delFs

c.641delC

1 paper

NM_002734.5

p.T214fs

c.640_641fs

2 papers

NM_002734.5

p.A213A

c.639C>G