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.E356_R357Fs

c.1067_1070delinsGCCCACFs

Surrounding Variants

1 paper

NM_002734.5

p.E356_R357Fs

c.1067_1070delinsGCCCAFs

1 paper

NM_002734.5

p.E356E

c.1068A>G

1 paper

NM_002734.5

p.R357C

c.1069C>T

1 paper

NM_002734.5

p.R357Fs

c.1070delinsGCCCAFs

2 papers

NM_002734.5

p.V358delFs

c.1074delT

1 paper

NM_002734.5

p.L359V

c.1075C>G

1 paper

NM_002734.5

p.P353R

c.1058C>G

1 paper

NM_002734.5

p.P353L

c.1058C>T

1 paper

NM_002734.5

p.P353delFs

c.1059delT

1 paper

NM_002734.5

p.L359Fs

c.1076_1077delinsAAATGGGCCAAGAFs

1 paper

NM_002734.5

p.P353fs

c.1057_1058fs

1 paper

NM_002734.5

p.P353S

c.1057C>T