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.E1600D

c.4800A>C

Surrounding Variants

3 papers

NM_005100.4

p.E1600D

c.4800A>T

1 paper

NM_005100.4

p.K1596_E1597del1

c.4787_4789delAAG

1 paper

NM_005100.4

p.E1595K

c.4783G>A

2 papers

NM_005100.4

p.S1618fs

c.4852_4853fs

1 paper

NM_005100.4

p.S1618insFs

c.4854dupA

1 paper

NM_005100.4

p.V1582M

c.4744G>A

1 paper

NM_005100.4

p.Q1577H

c.4731G>C

1 paper

NM_005100.4

p.Q1577H

c.4731G>T

1 paper

NM_005100.4

p.D1629H

c.4885G>C

1 paper

NM_005100.4

p.D1653N

c.4957G>A

1 paper

NM_005100.4

p.G1668S

c.5002G>A

1 paper

NM_005100.4

p.G1668A

c.5003G>C