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.P84fs

c.250_251fs

Surrounding Variants

1 paper

NM_002734.5

p.P84fs

c.250_251fs

4 papers

NM_002734.5

p.P84S

c.250C>T

1 paper

NM_002734.5

p.P84Fs

c.251_252delinsGFs

1 paper

NM_002734.5

p.P85S

c.253C>T

1 paper

NM_002734.5

p.S83A

c.247T>G

1 paper

NM_002734.5

p.S83_P84insFs

c.249_250dupTC

1 paper

NM_002734.5

p.P86S

c.256C>T

1 paper

NM_002734.5

p.P87S

c.259C>T

2 papers

NM_002734.5

p.E81*

c.241G>T

1 paper

NM_002734.5

p.E81delFs

c.242delA

1 paper

NM_002734.5

p.D80E

c.240T>A

1 paper

NM_002734.5

p.D80E

c.240T>G