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.R42G

c.124C>G

Surrounding Variants

2 papers

NM_002734.5

p.R42insFs

c.125dupG

15 papers

NM_002734.5

p.R42*

c.124C>T

1 paper

NM_002734.5

p.P43S

c.127C>T

2 papers

NM_002734.5

p.E44V

c.131A>T

1 paper

NM_002734.5

p.R45fs

c.133_134fs

3 papers

NM_002734.5

p.R45_P46insFs

c.135_136insCT

1 paper

NM_002734.5

p.P46delFs

c.138delC

1 paper

NM_002734.5

p.P46_F54del0

c.138_161del24

1 paper

NM_002734.5

p.Q37L

c.110A>T

2 papers

NM_002734.5

p.M47delFs

c.140delT

3 papers

NM_002734.5

p.M47fs

c.139_140fs

7 papers

NM_002734.5

p.Q37*

c.109C>T