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.S34delFs

c.101delC

Surrounding Variants

2 papers

NM_002734.5

p.S34fs

c.100_101fs

1 paper

NM_002734.5

p.I35L

c.103A>C

4 papers

NM_002734.5

p.D33N

c.97G>A

1 paper

NM_002734.5

p.D33fs

c.97_98fs

1 paper

NM_002734.5

p.D33Y

c.97G>T

6 papers

NM_002734.5

p.S34_I35delFs

c.101_105del5

2 papers

NM_002734.5

p.K32_D33insFs

c.96_97insT

1 paper

NM_002734.5

p.K32E

c.94A>G

4 papers

NM_002734.5

p.K32fs

c.94_95fs

3 papers

NM_002734.5

p.K32delFs

c.95_96delAA

1 paper

NM_002734.5

p.L31H

c.92T>A

7 papers

NM_002734.5

p.Q37*

c.109C>T