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.I40V

c.118A>G

Surrounding Variants

1 paper

NM_001164760.2

p.I40F

c.118A>T

1 paper

NM_001164760.2

p.E44K

c.130G>A

1 paper

NM_001164760.2

p.P46L

c.137C>T

1 paper

NM_001164760.2

p.L50I

c.148C>A

10 papers

NM_001164760.2

p.L50R

c.149T>G

1 paper

NM_001164760.2

p.Q28*

c.82C>T

1 paper

NM_001164760.2

p.L20L

c.60G>T

1 paper

NM_001164760.2

p.D12D

c.36C>T

1 paper

NM_001164760.2

p.A6V

c.17C>T

1 paper

NM_001164760.2

p.P4P

c.12G>A

1 paper

NM_001164760.2

p.A2A

c.6C>T

1 paper

NM_001164760.2

p.A2delFs

c.4delC