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

1–12 of 739 variants

36 papers

NM_002734.5

p.V164delFs

c.491_492delTG

30 papers

NM_002734.5

p.M1V

c.1A>G

26 papers

NM_002734.5

p.R368*

c.1102C>T

19 papers

NM_002734.5

p.R228*

c.682C>T

18 papers

NM_002734.5

p.R74C

c.220C>T

16 papers

NM_002734.5

p.A213D

c.638C>A

15 papers

NM_002734.5

p.R42*

c.124C>T

15 papers

NM_002734.5

p.R146S

c.438A>T

14 papers

NM_002734.5

p.R96*

c.286C>T

14 papers

NM_002734.5

p.D183Y

c.547G>T

14 papers

NM_002734.5

p.G289W

c.865G>T

13 papers

NM_002734.5

p.S147G

c.439A>G