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.E752A

c.2255A>C

Surrounding Variants

1 paper

NM_005100.4

p.E745G

c.2234A>G

1 paper

NM_005100.4

p.P744L

c.2231C>T

1 paper

NM_005100.4

p.S732A

c.2194T>G

1 paper

NM_005100.4

p.A730D

c.2189C>A

1 paper

NM_005100.4

p.G788A

c.2363G>C

1 paper

NM_005100.4

p.D710D

c.2130C>T

1 paper

NM_005100.4

p.W804_S806del3

c.2410_2417del9

1 paper

NM_005100.4

p.K809_F810ins1

c.2427_2428insTTC

1 paper

NM_005100.4

p.E668K

c.2002G>A

1 paper

NM_005100.4

p.P848L

c.2543C>T

1 paper

NM_005100.4

p.L849delFs

c.2545delC

1 paper

NM_005100.4

p.V638G

c.1913T>G