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.S505A

c.1513T>G

Surrounding Variants

1 paper

NM_005100.4

p.K510_Q512del3

c.1528_1535del9

2 papers

NM_005100.4

p.E494K

c.1480G>A

1 paper

NM_005100.4

p.K487E

c.1459A>G

1 paper

NM_005100.4

p.E486K

c.1456G>A

1 paper

NM_005100.4

p.G524D

c.1571G>A

1 paper

NM_005100.4

p.K527insFs

c.1580dupA

1 paper

NM_005100.4

p.K531T

c.1592A>C

1 paper

NM_005100.4

p.Q533K

c.1597C>A

1 paper

NM_005100.4

p.K467_E468delFs

c.1400_1404del5

1 paper

NM_005100.4

p.Q549E

c.1645C>G

1 paper

NM_005100.4

p.A460_K461delFs

c.1379_1383del5

1 paper

NM_005100.4

p.D553E

c.1659T>A