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.V184D

c.551T>A

Surrounding Variants

1 paper

NM_002734.5

p.Y185_V186del2

c.553_557del6

4 papers

NM_002734.5

p.V184I

c.550G>A

1 paper

NM_002734.5

p.D183_V184Splc

c.550-2A>G

1 paper

NM_002734.5

p.Y185C

c.554A>G

1 paper

NM_002734.5

p.V184delFs

c.550delG

1 paper

NM_002734.5

p.V186_N187insFs

c.558_559dupTA

2 papers

NM_002734.5

p.D183_V184Splc

c.550-6C>T

1 paper

NM_002734.5

p.D183_V184Splc

c.550-8C>T

1 paper

NM_002734.5

p.N188_E189ins5

c.562_566ins15

1 paper

NM_002734.5

p.E189K

c.565G>A

1 paper

NM_002734.5

p.E189insFs

c.565_566insC

1 paper

NM_002734.5

p.E189Fs

c.566_567delinsCACFs