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

6 papers

NM_002734.5

p.I282_V283insFs

c.846_847insA

Surrounding Variants

2 papers

NM_002734.5

p.I282insFs

c.845_846insA

1 paper

NM_002734.5

p.I282delFs

c.846delT

1 paper

NM_002734.5

p.I282fs

c.844_845fs

1 paper

NM_002734.5

p.V284insFs

c.851dupT

1 paper

NM_002734.5

p.V284fs

c.850_851fs

1 paper

NM_002734.5

p.V284V

c.852G>T

2 papers

NM_002734.5

p.Q280R

c.839A>G

1 paper

NM_002734.5

p.Q285fs

c.853_854fs

1 paper

NM_002734.5

p.Q285*

c.853C>T

1 paper

NM_002734.5

p.Q285fs

c.853_854fs

9 papers

NM_002734.5

p.Q285R

c.854A>G

1 paper

NM_002734.5

p.D278_G279ins1

c.834_835insCAA