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.Q167L

c.500A>T

Surrounding Variants

1 paper

NM_001164760.2

p.Q167delins

c.500_501delinsTT

1 paper

NM_001164760.2

p.G168R

c.502G>A

1 paper

NM_001164760.2

p.Q166K

c.496C>A

1 paper

NM_001164760.2

p.I159I

c.477C>T

1 paper

NM_001164760.2

p.I159F

c.475A>T

1 paper

NM_001164760.2

p.V156_T157delFs

c.468_469delTG

1 paper

NM_001164760.2

p.S147Splc

c.441-8C>T

1 paper

NM_001164760.2

p.V177I

c.529G>A

2 papers

NM_001164760.2

p.D183Y

c.547G>T