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.F292L

c.874T>C

Surrounding Variants

2 papers

NM_002734.5

p.E291G

c.872A>G

1 paper

NM_002734.5

p.F292F

c.876C>T

1 paper

NM_002734.5

p.E291K

c.871G>A

1 paper

NM_002734.5

p.E291fs

c.871_872fs

1 paper

NM_002734.5

p.E291*

c.871G>T

2 papers

NM_002734.5

p.F293L

c.877T>C

2 papers

NM_002734.5

p.F293L

c.879C>A

2 papers

NM_002734.5

p.F293L

c.879C>G

1 paper

NM_002734.5

p.G289G

c.867G>A

9 papers

NM_002734.5

p.G289E

c.866G>A

3 papers

NM_002734.5

p.I295_E297del3

c.883_890del9

1 paper

NM_002734.5

p.I295fs

c.883_884fs