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

7 papers

NM_002734.5

p.Q372*

c.1114C>T

Surrounding Variants

1 paper

NM_002734.5

p.Q372_Y373delFs

c.1115_1118del4

1 paper

NM_002734.5

p.Q372P

c.1115A>C

7 papers

NM_002734.5

p.Y373H

c.1117T>C

1 paper

NM_002734.5

p.Y373_N374insT

c.1117_1121ins3

5 papers

NM_002734.5

p.Y373C

c.1118A>G

1 paper

NM_002734.5

p.F376insFs

c.1128dupT

1 paper

NM_002734.5

p.R368Q

c.1103G>A

1 paper

NM_002734.5

p.R368L

c.1103G>T

1 paper

NM_002734.5

p.R368_Q371del0

c.1104_1112del9

1 paper

NM_002734.5

p.R368G

c.1102C>G

26 papers

NM_002734.5

p.R368*

c.1102C>T

2 papers

NM_002734.5

p.V377_S378delFs

c.1131_1132delGT