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

1–12 of 96 variants

10 papers

NM_001164760.2

p.L50R

c.149T>G

5 papers

NM_001164760.2

p.R335W

c.1003C>T

4 papers

NM_001164760.2

p.A67V

c.200C>T

4 papers

NM_001164760.2

p.R115K

c.344G>A

4 papers

NM_001164760.2

p.E196K

c.586G>A

3 papers

NM_001164760.2

p.I40V

c.118A>G

3 papers

NM_001164760.2

p.Q167L

c.500A>T

3 papers

NM_001164760.2

p.R211K

c.632G>A

3 papers

NM_001164760.2

p.A300T

c.898G>A

2 papers

NM_001164760.2

p.M1V

c.1A>G

2 papers

NM_001164760.2

p.R97*

c.289C>T

2 papers

NM_001164760.2

p.D183Y

c.547G>T