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.R335Fs

c.1003delinsGAFs

Surrounding Variants

5 papers

NM_002734.5

p.R335C

c.1003C>T

7 papers

NM_002734.5

p.R335P

c.1004G>C

7 papers

NM_002734.5

p.R335L

c.1004G>T

6 papers

NM_002734.5

p.R333H

c.998G>A

1 paper

NM_002734.5

p.R333P

c.998G>C

1 paper

NM_002734.5

p.R333L

c.998G>T

2 papers

NM_002734.5

p.R333C

c.997C>T

1 paper

NM_002734.5

p.N332K

c.996T>A

2 papers

NM_002734.5

p.N332K

c.996T>G

1 paper

NM_002734.5

p.M331fs

c.991_992fs

1 paper

NM_002734.5

p.V340F

c.1018G>T

1 paper

NM_002734.5

p.L329P

c.986T>C