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

4 papers

NM_002734.5

p.R232*

c.694A>T

Surrounding Variants

5 papers

NM_002734.5

p.Y231_R232insFs

c.693_694insT

1 paper

NM_002734.5

p.R233*

c.697A>T

1 paper

NM_002734.5

p.S230N

c.689G>A

1 paper

NM_002734.5

p.D229E

c.687C>A

1 paper

NM_002734.5

p.D229E

c.687C>G

1 paper

NM_002734.5

p.L235R

c.704T>G

1 paper

NM_002734.5

p.M236del1

c.706_707delATG

1 paper

NM_002734.5

p.R228R

c.682C>A

2 papers

NM_002734.5

p.R228insFs

c.682_683ins22

1 paper

NM_002734.5

p.R228G

c.682C>G

19 papers

NM_002734.5

p.R228*

c.682C>T

3 papers

NM_002734.5

p.R228fs

c.682_683fs