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.V131D

c.392T>A

Surrounding Variants

4 papers

NM_005100.4

p.H132H

c.396C>T

1 paper

NM_005100.4

p.A129T

c.385G>A

1 paper

NM_005100.4

p.T135T

c.405A>C

1 paper

NM_005100.4

p.Q139H

c.417G>C

1 paper

NM_005100.4

p.Q139H

c.417G>T

1 paper

NM_005100.4

p.D119H

c.355G>C

1 paper

NM_005100.4

p.R118R

c.352A>C

7 papers

NM_005100.4

p.K117E

c.349A>G

1 paper

NM_005100.4

p.S116_K117insFs

c.348_349insG

1 paper

NM_005100.4

p.S116fs

c.346_347fs

1 paper

NM_005100.4

p.S112fs

c.334_335fs

1 paper

NM_005100.4

p.S112delFs

c.335_336delCT