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

1 paper

NM_002734.5

p.S112fs

c.334_335fs

Surrounding Variants

1 paper

NM_002734.5

p.A110E

c.329C>A

1 paper

NM_002734.5

p.A110_Y113ins1

c.330_338dup9

1 paper

NM_002734.5

p.Y113*

c.339T>A

1 paper

NM_002734.5

p.Y113*

c.339T>G

7 papers

NM_002734.5

p.V114delFs

c.340delG

1 paper

NM_002734.5

p.A110T

c.328G>A

1 paper

NM_002734.5

p.A110insFs

c.329dupC

1 paper

NM_002734.5

p.A110fs

c.328_329fs

1 paper

NM_002734.5

p.V114fs

c.340_341fs

1 paper

NM_002734.5

p.R115*

c.343A>T

1 paper

NM_002734.5

p.D109H

c.325G>C

1 paper

NM_002734.5

p.R115K

c.344G>A