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.S3P

c.7T>C

Surrounding Variants

1 paper

NM_002734.5

p.S3fs

c.7_8fs

1 paper

NM_002734.5

p.S3delFs

c.8delC

3 papers

NM_002734.5

p.S3insFs

c.8_9insT

1 paper

NM_002734.5

p.G4insFs

c.10_11insTG

1 paper

NM_002734.5

p.G4delFs

c.11delG

1 paper

NM_002734.5

p.E2insFs

c.5dupA

1 paper

NM_002734.5

p.G4insFs

c.10_11insGT

2 papers

NM_002734.5

p.G4fs

c.10_11fs

3 papers

NM_002734.5

p.E2insFs

c.4_5insT

6 papers

NM_002734.5

p.M1I

c.3G>A

1 paper

NM_002734.5

p.M1_E2insFs

c.3_4insA

2 papers

NM_002734.5

p.M1I

c.3G>T