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.T106delFs

c.316_317delAC

Surrounding Variants

1 paper

NM_002734.5

p.Y105C

c.314A>G

1 paper

NM_002734.5

p.V104I

c.310G>A

1 paper

NM_002734.5

p.V104L

c.310G>C

2 papers

NM_002734.5

p.E107delFs

c.319delG

1 paper

NM_002734.5

p.T106T

c.318G>C

1 paper

NM_002734.5

p.E107fs

c.319_320fs

4 papers

NM_002734.5

p.E107*

c.319G>T

1 paper

NM_002734.5

p.E108*

c.322G>T

1 paper

NM_002734.5

p.S101N

c.302G>A

1 paper

NM_002734.5

p.S101_A102delFs

c.303_304delCG

1 paper

NM_002734.5

p.D109H

c.325G>C

1 paper

NM_002734.5

p.I100M

c.300C>G