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.Y175insFs

c.523_524insG

Surrounding Variants

4 papers

NM_002734.5

p.Y175C

c.524A>G

2 papers

NM_002734.5

p.I177_D178delFs

c.531_534del4

1 paper

NM_002734.5

p.F174fs

c.520_521fs

1 paper

NM_002734.5

p.F174_Y175delFs

c.522_523delCT

1 paper

NM_002734.5

p.V176_I177Fs

c.528_531delinsTATGATCAATCFs

1 paper

NM_002734.5

p.N173_F174ins6

c.517_521ins18

1 paper

NM_002734.5

p.N173H

c.517A>C

2 papers

NM_002734.5

p.D172fs

c.514_515fs

1 paper

NM_002734.5

p.D178fs

c.532_533fs

2 papers

NM_002734.5

p.G171E

c.512G>A

1 paper

NM_002734.5

p.D178E

c.534T>A

1 paper

NM_002734.5

p.D178E

c.534T>G