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.V340M

c.1018G>A

Surrounding Variants

1 paper

NM_001164760.2

p.R335Q

c.1004G>A

5 papers

NM_001164760.2

p.R335W

c.1003C>T

1 paper

NM_001164760.2

p.A328A

c.984A>G

1 paper

NM_001164760.2

p.R352W

c.1054C>T

1 paper

NM_001164760.2

p.E326A

c.977A>C

1 paper

NM_001164760.2

p.E326Q

c.976G>C

1 paper

NM_001164760.2

p.E326K

c.976G>A

1 paper

NM_001164760.2

p.G325E

c.974G>A

1 paper

NM_001164760.2

p.R354fs

c.1060_1061fs

1 paper

NM_001164760.2

p.F355F

c.1065C>T

1 paper

NM_001164760.2

p.S363S

c.1089T>G

1 paper

NM_001164760.2

p.N369T

c.1106A>C