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.Q275delFs

c.824_825delAG

Surrounding Variants

1 paper

NM_002734.5

p.Q275fs

c.823_824fs

3 papers

NM_002734.5

p.Q275insFs

c.823dupC

7 papers

NM_002734.5

p.Q275_F276insFs

c.825_826insA

1 paper

NM_002734.5

p.P273_V274ins4

c.817_821ins12

1 paper

NM_002734.5

p.D278insFs

c.832dupG

1 paper

NM_002734.5

p.E272*

c.814G>T

1 paper

NM_002734.5

p.D278_G279ins1

c.834_835insCAA

1 paper

NM_002734.5

p.L271fs

c.811_812fs

3 papers

NM_002734.5

p.L271insFs

c.812dupT

1 paper

NM_002734.5

p.A270E

c.809C>A

1 paper

NM_002734.5

p.A270_L271insFs

c.810_811insA

2 papers

NM_002734.5

p.A270fs

c.808_809fs