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.Q384_S388delFs

c.1152_1162del11

Surrounding Variants

1 paper

NM_005100.4

p.E367K

c.1099G>A

1 paper

NM_005100.4

p.E348_K349insG

c.1042_1046ins3

1 paper

NM_005100.4

p.R427S

c.1281A>C

1 paper

NM_005100.4

p.E429insFs

c.1286dupA

1 paper

NM_005100.4

p.E429delFs

c.1286delA

1 paper

NM_005100.4

p.E338K

c.1012G>A

1 paper

NM_005100.4

p.E436Q

c.1306G>C

1 paper

NM_005100.4

p.A444T

c.1330G>A

1 paper

NM_005100.4

p.E322K

c.964G>A

1 paper

NM_005100.4

p.K317*

c.949A>T

1 paper

NM_005100.4

p.A460_K461delFs

c.1379_1383del5

1 paper

NM_005100.4

p.R308C

c.922C>T