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.L57insFs

c.170_171insG

Surrounding Variants

1 paper

NM_002734.5

p.L57ins1

c.170_171insGCA

1 paper

NM_002734.5

p.L57fs

c.169_170fs

1 paper

NM_002734.5

p.R56R

c.168G>A

1 paper

NM_002734.5

p.R56S

c.168G>C

1 paper

NM_002734.5

p.E58ins2

c.173_174ins6

1 paper

NM_002734.5

p.L57insFs

c.170dupT

1 paper

NM_002734.5

p.E58insFs

c.172_173insT

2 papers

NM_002734.5

p.E58*

c.172G>T

1 paper

NM_002734.5

p.L57_E58del2

c.169_173del6

1 paper

NM_002734.5

p.R56G

c.166A>G

2 papers

NM_002734.5

p.E58E

c.174G>A

1 paper

NM_002734.5

p.E55_R56insFs

c.165_166ins4