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

1–12 of 197 variants

7 papers

NM_005100.4

p.K117E

c.349A>G

5 papers

NM_005100.4

p.K216Q

c.646A>C

4 papers

NM_005100.4

p.H132H

c.396C>T

4 papers

NM_005100.4

p.A1182T

c.3544G>A

3 papers

NM_005100.4

p.E240K

c.718G>A

3 papers

NM_005100.4

p.E268_G269del1

c.804_806delAGG

3 papers

NM_005100.4

p.E1600D

c.4800A>C

3 papers

NM_005100.4

p.E1600D

c.4800A>T

3 papers

NM_005100.4

p.E1689D

c.5067G>C

3 papers

NM_005100.4

p.E1689D

c.5067G>T

2 papers

NM_005100.4

p.S19G

c.55A>G

2 papers

NM_005100.4

p.P27P

c.81C>T