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.Q23delFs

c.68_69delAG

Surrounding Variants

2 papers

NM_002734.5

p.V22_Q28insFs

c.65_84dup20

1 paper

NM_002734.5

p.K24R

c.71A>G

3 papers

NM_002734.5

p.Y21*

c.63C>A

3 papers

NM_002734.5

p.Y21*

c.63C>G

2 papers

NM_002734.5

p.Y21_V22delins

c.63_64delinsGA

1 paper

NM_002734.5

p.Y21C

c.62A>G

1 paper

NM_002734.5

p.Y21_V22delFs

c.63_64delCG

1 paper

NM_002734.5

p.H25D

c.73C>G

1 paper

NM_002734.5

p.Y21insFs

c.61_62insAC

1 paper

NM_002734.5

p.Y21fs

c.61_62fs

1 paper

NM_002734.5

p.Y21_V22insT

c.61_65ins3

2 papers

NM_002734.5

p.H25_N26insFs

c.75_78dup4