Varaico: Literature-Extracted Genetic Variants

PRKAR1B

74 papers

RefSeq Summary

The protein encoded by this gene is a regulatory subunit of cyclic AMP-dependent protein kinase A (PKA), which is involved in the signaling pathway of the second messenger cAMP. Two regulatory and two...

Pfam Domains

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

cNMP_bindingaa 156–238UCSCCyclic nucleotide-binding domain

cNMP_bindingaa 273–360UCSCCyclic nucleotide-binding domain

Gene Aliases

HGNC Name

protein kinase cAMP-dependent type I regulatory subunit beta

HGNC Previous Names

protein kinase, cAMP-dependent, regulatory, type I, beta; protein kinase, cAMP-dependent, regulatory subunit type I beta

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001164760.2

p.R211K

c.632G>A

Surrounding Variants

1 paper

NM_001164760.2

p.A213V

c.638C>T

1 paper

NM_001164760.2

p.T214T

c.642C>T

1 paper

NM_001164760.2

p.K218N

c.654G>C

1 paper

NM_001164760.2

p.T219M

c.656C>T

1 paper

NM_001164760.2

p.E202A

c.605A>C

1 paper

NM_001164760.2

p.G201E

c.602G>A

1 paper

NM_001164760.2

p.G225insFs

c.675dupG

4 papers

NM_001164760.2

p.E196K

c.586G>A

1 paper

NM_001164760.2

p.I226fs

c.676_677fs

1 paper

NM_001164760.2

p.N193delFs

c.578delT

2 papers

NM_001164760.2

p.R232Q

c.695G>A

1 paper

NM_001164760.2

p.V186_N187insFs

c.558_559insC