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.E886K

c.2656G>A

Surrounding Variants

1 paper

NM_005100.4

p.S887C

c.2659A>T

1 paper

NM_005100.4

p.K882T

c.2645A>C

1 paper

NM_005100.4

p.E920G

c.2759A>G

1 paper

NM_005100.4

p.L849delFs

c.2545delC

1 paper

NM_005100.4

p.P848L

c.2543C>T

1 paper

NM_005100.4

p.Q924H

c.2772A>C

1 paper

NM_005100.4

p.E946E

c.2838A>G

1 paper

NM_005100.4

p.P948H

c.2843C>A

1 paper

NM_005100.4

p.R961Q

c.2882G>A

1 paper

NM_005100.4

p.K809_F810ins1

c.2427_2428insTTC

1 paper

NM_005100.4

p.W804_S806del3

c.2410_2417del9

1 paper

NM_005100.4

p.A969V

c.2906C>T