Varaico: Literature-Extracted Genetic Variants

PRKAR1A

551 papers

RefSeq Summary

cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation...

Pfam Domains

RIIaaa 25–62UCSCRegulatory subunit of type II PKA R-subunit

cNMP_bindingaa 155–238UCSCCyclic nucleotide-binding domain

cNMP_bindingaa 273–360UCSCCyclic nucleotide-binding domain

Gene Aliases

HGNC Name

protein kinase cAMP-dependent type I regulatory subunit alpha

HGNC Previous Symbols

PRKAR1; TSE1; PKR1; Prkar1alpha

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_002734.5

p.G168S

c.502G>A

Surrounding Variants

1 paper

NM_002734.5

p.G168C

c.502G>T

9 papers

NM_002734.5

p.G168Splc

c.502+1G>A

1 paper

NM_002734.5

p.G168A

c.503G>C

7 papers

NM_002734.5

p.G168V

c.503G>T

1 paper

NM_002734.5

p.Q167L

c.500A>T

2 papers

NM_002734.5

p.G168Splc

c.502+2T>G

1 paper

NM_002734.5

p.G168Splc

c.502+3A>C

4 papers

NM_002734.5

p.Q167*

c.499C>T

9 papers

NM_002734.5

p.Q166*

c.496C>T

1 paper

NM_002734.5

p.I165insFs

c.494dupT

1 paper

NM_002734.5

p.I165fs

c.493_494fs

2 papers

NM_002734.5

p.V164V

c.492G>A