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.G343D

c.1028G>A

Surrounding Variants

1 paper

NM_002734.5

p.G343S

c.1027G>A

1 paper

NM_002734.5

p.R342P

c.1025G>C

3 papers

NM_002734.5

p.R342C

c.1024C>T

1 paper

NM_002734.5

p.L345F

c.1035G>C

1 paper

NM_002734.5

p.K346T

c.1037A>C

1 paper

NM_002734.5

p.V340F

c.1018G>T

1 paper

NM_002734.5

p.C347R

c.1039T>C

1 paper

NM_002734.5

p.V348I

c.1042G>A

1 paper

NM_002734.5

p.K349N

c.1047G>C

1 paper

NM_002734.5

p.K349N

c.1047G>T

1 paper

NM_002734.5

p.L350V

c.1048C>G

2 papers

NM_002734.5

p.R352_P353delFs

c.1055_1058del4