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

2 papers

NM_002734.5

p.R51G

c.151A>G

Surrounding Variants

1 paper

NM_002734.5

p.R51S

c.153G>C

1 paper

NM_002734.5

p.R51S

c.153G>T

1 paper

NM_002734.5

p.L50R

c.149T>G

1 paper

NM_002734.5

p.E52K

c.154G>A

1 paper

NM_002734.5

p.E52delFs

c.156delA

1 paper

NM_002734.5

p.E52fs

c.154_155fs

1 paper

NM_002734.5

p.F49delFs

c.145delT

1 paper

NM_002734.5

p.A48V

c.143C>T

1 paper

NM_002734.5

p.Y53Y

c.159C>T

2 papers

NM_002734.5

p.A48T

c.142G>A

1 paper

NM_002734.5

p.F54fs

c.160_161fs

1 paper

NM_002734.5

p.M47T

c.140T>C