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.T608S

c.1823C>G

Surrounding Variants

1 paper

NM_005100.4

p.T608S

c.1822A>T

1 paper

NM_005100.4

p.P609S

c.1825C>T

1 paper

NM_005100.4

p.K615T

c.1844A>C

1 paper

NM_005100.4

p.M616T

c.1847T>C

1 paper

NM_005100.4

p.A596S

c.1786G>T

1 paper

NM_005100.4

p.R625W

c.1873C>T

1 paper

NM_005100.4

p.K637Q

c.1909A>C

1 paper

NM_005100.4

p.V638G

c.1913T>G

1 paper

NM_005100.4

p.E574K

c.1720G>A

1 paper

NM_005100.4

p.S566F

c.1697C>T

1 paper

NM_005100.4

p.S565fs

c.1693_1694fs

1 paper

NM_005100.4

p.S565_S566delFs

c.1694_1698del5