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.E287*

c.859G>T

Surrounding Variants

2 papers

NM_002734.5

p.E287K

c.859G>A

1 paper

NM_002734.5

p.E287D

c.861A>C

1 paper

NM_002734.5

p.E287D

c.861A>T

1 paper

NM_002734.5

p.P288fs

c.862_863fs

9 papers

NM_002734.5

p.Q285R

c.854A>G

1 paper

NM_002734.5

p.Q285fs

c.853_854fs

1 paper

NM_002734.5

p.Q285*

c.853C>T

1 paper

NM_002734.5

p.Q285fs

c.853_854fs

14 papers

NM_002734.5

p.G289W

c.865G>T

9 papers

NM_002734.5

p.G289E

c.866G>A

1 paper

NM_002734.5

p.V284V

c.852G>T

1 paper

NM_002734.5

p.G289G

c.867G>A