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

14 papers

NM_002734.5

p.R96*

c.286C>T

Surrounding Variants

2 papers

NM_002734.5

p.R96_R97insT

c.286_290ins3

1 paper

NM_002734.5

p.R96R

c.288A>G

1 paper

NM_002734.5

p.R95W

c.283A>T

1 paper

NM_002734.5

p.R97fs

c.289_290fs

8 papers

NM_002734.5

p.R97*

c.289C>T

1 paper

NM_002734.5

p.R97delFs

c.290delG

1 paper

NM_002734.5

p.R97fs

c.289_290fs

1 paper

NM_002734.5

p.R97_A102delFs

c.290_306del17

1 paper

NM_002734.5

p.R97Q

c.290G>A

1 paper

NM_002734.5

p.A99del1

c.295_297delGCT

1 paper

NM_002734.5

p.A99fs

c.295_296fs

1 paper

NM_002734.5

p.A99S

c.295G>T