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

3 papers

NM_002734.5

p.Q66*

c.196C>T

Surrounding Variants

1 paper

NM_002734.5

p.N67fs

c.199_200fs

3 papers

NM_002734.5

p.Q64*

c.190C>T

1 paper

NM_002734.5

p.K63insFs

c.188_189ins5

1 paper

NM_002734.5

p.L68L

c.204G>A

5 papers

NM_002734.5

p.K63*

c.187A>T

4 papers

NM_002734.5

p.Q69*

c.205C>T

2 papers

NM_002734.5

p.Q69_K70delFs

c.207_208delGA

3 papers

NM_002734.5

p.Q69R

c.206A>G

2 papers

NM_002734.5

p.K70fs

c.208_209fs

1 paper

NM_002734.5

p.A62delFs

c.185_186delCA

1 paper

NM_002734.5

p.E61V

c.182A>T

1 paper

NM_002734.5

p.E61_A62insAC

c.181_185ins6