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.E10D

c.30G>T

Surrounding Variants

1 paper

NM_002734.5

p.E10D

c.30G>C

1 paper

NM_002734.5

p.E10delFs

c.30delG

1 paper

NM_002734.5

p.E11_E17delFs

c.33_49del17

2 papers

NM_002734.5

p.E10fs

c.28_29fs

1 paper

NM_002734.5

p.E10_E11insGT

c.28_32ins6

1 paper

NM_002734.5

p.E10insFs

c.28dupG

8 papers

NM_002734.5

p.S9N

c.26G>A

2 papers

NM_002734.5

p.S9insFs

c.26_27ins7

2 papers

NM_002734.5

p.A12S

c.34G>T

2 papers

NM_002734.5

p.R13H

c.38G>A

1 paper

NM_002734.5

p.A8insFs

c.22_23insT

2 papers

NM_002734.5

p.A8fs

c.22_23fs