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

4 papers

NM_002734.5

p.V267insFs

c.799_800insAA

Surrounding Variants

1 paper

NM_002734.5

p.T266T

c.798G>A

2 papers

NM_002734.5

p.T266M

c.797C>T

1 paper

NM_002734.5

p.A268T

c.802G>A

2 papers

NM_002734.5

p.A268insFs

c.804dupT

1 paper

NM_002734.5

p.A268V

c.803C>T

1 paper

NM_002734.5

p.T266insFs

c.796dupA

2 papers

NM_002734.5

p.D269_Q275ins2

c.805_825dup21

1 paper

NM_002734.5

p.D269fs

c.805_806fs

5 papers

NM_002734.5

p.D269G

c.806A>G

1 paper

NM_002734.5

p.R264H

c.791G>A

2 papers

NM_002734.5

p.A270fs

c.808_809fs

1 paper

NM_002734.5

p.A270E

c.809C>A