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.S77A

c.229T>G

Surrounding Variants

3 papers

NM_002734.5

p.D76D

c.228C>T

1 paper

NM_002734.5

p.S77L

c.230C>T

1 paper

NM_002734.5

p.D76V

c.227A>T

1 paper

NM_002734.5

p.R78delFs

c.233delG

1 paper

NM_002734.5

p.R78T

c.233G>C

1 paper

NM_002734.5

p.R78delins

c.233_234delinsCA

1 paper

NM_002734.5

p.T75fs

c.223_224fs

1 paper

NM_002734.5

p.E79fs

c.235_236fs

1 paper

NM_002734.5

p.D80delFs

c.238delG

1 paper

NM_002734.5

p.T75delFs

c.224_225delCA

11 papers

NM_002734.5

p.R74H

c.221G>A

1 paper

NM_002734.5

p.D80_S83del4

c.238_248del12