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.E145Q

c.433G>C

Surrounding Variants

1 paper

NM_002734.5

p.E145fs

c.433_434fs

2 papers

NM_002734.5

p.E145V

c.434A>T

1 paper

NM_002734.5

p.N144fs

c.430_431fs

1 paper

NM_002734.5

p.R146fs

c.436_437fs

2 papers

NM_002734.5

p.N144insFs

c.431dupA

11 papers

NM_002734.5

p.R146S

c.438A>C

15 papers

NM_002734.5

p.R146S

c.438A>T

13 papers

NM_002734.5

p.S147G

c.439A>G

1 paper

NM_002734.5

p.S147C

c.439A>T

5 papers

NM_002734.5

p.S147N

c.440G>A

6 papers

NM_002734.5

p.S147Splc

c.440+1G>A

2 papers

NM_002734.5

p.S147Splc

c.440+1G>C