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

1 paper

NM_001164760.2

p.P87delFs

c.260delG

Surrounding Variants

1 paper

NM_001164760.2

p.P87fs

c.259_260fs

1 paper

NM_001164760.2

p.P87fs

c.259_260fs

1 paper

NM_001164760.2

p.P87A

c.259C>G

1 paper

NM_001164760.2

p.T85N

c.254C>A

1 paper

NM_001164760.2

p.T85fs

c.253_254fs

1 paper

NM_001164760.2

p.P84_T85insFs

c.252_253ins10

1 paper

NM_001164760.2

p.V91G

c.272T>G

1 paper

NM_001164760.2

p.K92*

c.274A>T

1 paper

NM_001164760.2

p.R95C

c.283C>T

1 paper

NM_001164760.2

p.E80K

c.238G>A

2 papers

NM_001164760.2

p.R97*

c.289C>T

1 paper

NM_001164760.2

p.D76delFs

c.228delG