Varaico: Literature-Extracted Genetic Variants

AKAP13

498 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 holoen...

Pfam Domains

PH_16aa 837–954UCSCPH domain

RII_binding_1aa 1246–1264UCSCRII binding domain

RhoGEFaa 1998–2189UCSCRhoGEF domain

PHaa 2215–2333UCSCPH domain

Gene Aliases

HGNC Name

A-kinase anchoring protein 13

HGNC Previous Symbol

LBC

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_007200.5

p.P984L

c.2951C>T

Surrounding Variants

1 paper

NM_007200.5

p.S988C

c.2963C>G

1 paper

NM_007200.5

p.E996K

c.2986G>A

1 paper

NM_007200.5

p.L1007fs

c.3019_3020fs

1 paper

NM_007200.5

p.Q961E

c.2881C>G

1 paper

NM_007200.5

p.G957G

c.2871A>T

1 paper

NM_007200.5

p.E950K

c.2848G>A

1 paper

NM_007200.5

p.D929N

c.2785G>A

1 paper

NM_007200.5

p.S1040S

c.3120C>T

4 papers

NM_007200.5

p.P1062A

c.3184C>G

1 paper

NM_007200.5

p.S1063delFs

c.3188_3189delCT

1 paper

NM_007200.5

p.P1064delFs

c.3191delC

4 papers

NM_007200.5

p.V897M

c.2689G>A