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.E17fs

c.49_50fs

Surrounding Variants

1 paper

NM_002734.5

p.E17insFs

c.51dupA

4 papers

NM_002734.5

p.E17*

c.49G>T

1 paper

NM_002734.5

p.R16R

c.48A>T

2 papers

NM_002734.5

p.C18_E19insFs

c.54_55dupTG

2 papers

NM_002734.5

p.C18delFs

c.52_53delTG

7 papers

NM_002734.5

p.R16Q

c.47G>A

8 papers

NM_002734.5

p.R16*

c.46C>T

4 papers

NM_002734.5

p.C18G

c.52T>G

1 paper

NM_002734.5

p.C18*

c.54T>A

1 paper

NM_002734.5

p.L15fs

c.43_44fs

1 paper

NM_002734.5

p.L15F

c.43C>T

1 paper

NM_002734.5

p.E19*

c.55G>T