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

3 papers

NM_005100.4

p.E1689D

c.5067G>C

Surrounding Variants

3 papers

NM_005100.4

p.E1689D

c.5067G>T

1 paper

NM_005100.4

p.E1694_D1698del5

c.5080_5093del15

1 paper

NM_005100.4

p.G1668A

c.5003G>C

1 paper

NM_005100.4

p.G1668S

c.5002G>A

1 paper

NM_005100.4

p.D1653N

c.4957G>A

1 paper

NM_005100.4

p.P1728fs

c.5182_5183fs

1 paper

NM_005100.4

p.D1629H

c.4885G>C

1 paper

NM_005100.4

p.S1618insFs

c.4854dupA

2 papers

NM_005100.4

p.S1618fs

c.4852_4853fs

1 paper

NM_005100.4

p.A1763fs

c.5287_5288fs

1 paper

NM_005100.4

p.A1763delFs

c.5288delC

3 papers

NM_005100.4

p.E1600D

c.4800A>C