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.W190fs

c.568_569fs

Surrounding Variants

2 papers

NM_002734.5

p.W190R

c.568T>C

3 papers

NM_002734.5

p.W190G

c.568T>G

1 paper

NM_002734.5

p.W190delFs

c.569delG

7 papers

NM_002734.5

p.E189D

c.567A>C

7 papers

NM_002734.5

p.E189D

c.567A>T

2 papers

NM_002734.5

p.W190_A191delFs

c.568_571del4

2 papers

NM_002734.5

p.W190*

c.569G>A

1 paper

NM_002734.5

p.E189Fs

c.566_567delinsCACFs

3 papers

NM_002734.5

p.W190*

c.570G>A

1 paper

NM_002734.5

p.E189K

c.565G>A

1 paper

NM_002734.5

p.E189insFs

c.565_566insC

1 paper

NM_002734.5

p.N188_E189ins5

c.562_566ins15