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.E271G

c.812A>G

Surrounding Variants

3 papers

NM_005100.4

p.E268_G269del1

c.804_806delAGG

1 paper

NM_005100.4

p.E268_G269del2

c.802_806del6

1 paper

NM_005100.4

p.P277R

c.830C>G

1 paper

NM_005100.4

p.E257K

c.769G>A

1 paper

NM_005100.4

p.T292A

c.874A>G

1 paper

NM_005100.4

p.F299fs

c.895_896fs

1 paper

NM_005100.4

p.Q302E

c.904C>G

3 papers

NM_005100.4

p.E240K

c.718G>A

1 paper

NM_005100.4

p.S235C

c.704C>G

1 paper

NM_005100.4

p.R308C

c.922C>T

1 paper

NM_005100.4

p.K233N

c.699A>C

1 paper

NM_005100.4

p.K233N

c.699A>T