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.G171_N173del3

c.511_518del9

Surrounding Variants

2 papers

NM_002734.5

p.D172delFs

c.514delG

2 papers

NM_002734.5

p.G171E

c.512G>A

1 paper

NM_002734.5

p.E170K

c.508G>A

1 paper

NM_002734.5

p.E170_G171insGCA

c.508_512ins9

1 paper

NM_002734.5

p.G171_Q179del9

c.511_536del27

2 papers

NM_002734.5

p.D172fs

c.514_515fs

1 paper

NM_002734.5

p.N173_F174ins6

c.517_521ins18

1 paper

NM_002734.5

p.N173H

c.517A>C

1 paper

NM_002734.5

p.G168A

c.503G>C

2 papers

NM_002734.5

p.G168V

c.503G>T

1 paper

NM_002734.5

p.G168Splc

c.503-1G>A

1 paper

NM_002734.5

p.G168Splc

c.503-1G>T