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.D178E

c.534T>A

Surrounding Variants

1 paper

NM_002734.5

p.D178E

c.534T>G

1 paper

NM_002734.5

p.Q179E

c.535C>G

2 papers

NM_002734.5

p.Q179*

c.535C>T

4 papers

NM_002734.5

p.Q179delFs

c.537delA

1 paper

NM_002734.5

p.D178fs

c.532_533fs

2 papers

NM_002734.5

p.E181_T182delFs

c.543_544delGA

2 papers

NM_002734.5

p.G180fs

c.538_539fs

1 paper

NM_002734.5

p.V176_I177Fs

c.528_531delinsTATGATCAATCFs

2 papers

NM_002734.5

p.E181fs

c.541_542fs

2 papers

NM_002734.5

p.I177_D178delFs

c.531_534del4

1 paper

NM_002734.5

p.T182insFs

c.545dupC

4 papers

NM_002734.5

p.Y175C

c.524A>G