Varaico: Literature-Extracted Genetic Variants

AKAP12

161 papers

RefSeq Summary

The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoe...

Pfam Domains

WSKaa 605–633UCSCWSK motif

WSKaa 754–782UCSCWSK motif

WSKaa 799–826UCSCWSK motif

Gene Aliases

HGNC Name

A-kinase anchoring protein 12

HGNC Alias Symbols

AKAP250; SSeCKS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005100.4

p.A1449T

c.4345G>A

Surrounding Variants

1 paper

NM_005100.4

p.E1459fs

c.4375_4376fs

2 papers

NM_005100.4

p.N1461fs

c.4381_4382fs

1 paper

NM_005100.4

p.N1436K

c.4308C>A

1 paper

NM_005100.4

p.N1436K

c.4308C>G

1 paper

NM_005100.4

p.G1432_E1433ins1

c.4296_4297insGAG

1 paper

NM_005100.4

p.G1432R

c.4294G>A

1 paper

NM_005100.4

p.G1432R

c.4294G>C

1 paper

NM_005100.4

p.E1433ins1

c.4297_4298insGAG

1 paper

NM_005100.4

p.Q1402H

c.4206A>C

1 paper

NM_005100.4

p.Q1402H

c.4206A>T

1 paper

NM_005100.4

p.L1400_E1404del5

c.4198_4211del15

1 paper

NM_005100.4

p.D1499N

c.4495G>A