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.V204V

c.612G>A

Surrounding Variants

1 paper

NM_007200.5

p.V204L

c.610G>C

1 paper

NM_007200.5

p.L206delFs

c.616delT

1 paper

NM_007200.5

p.P203H

c.608C>A

1 paper

NM_007200.5

p.T202M

c.605C>T

1 paper

NM_007200.5

p.R210*

c.628C>T

1 paper

NM_007200.5

p.Y212delFs

c.636delT

5 papers

NM_007200.5

p.K214E

c.640A>G

1 paper

NM_007200.5

p.I195T

c.584T>C

1 paper

NM_007200.5

p.K214delFs

c.642delG

1 paper

NM_007200.5

p.Q217K

c.649C>A

2 papers

NM_007200.5

p.A192T

c.574G>A

1 paper

NM_007200.5

p.A192ins2

c.574_575ins6