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.M302insFs

c.904_905insC

Surrounding Variants

1 paper

NM_007200.5

p.M301L

c.901A>T

1 paper

NM_007200.5

p.T303I

c.908C>T

1 paper

NM_007200.5

p.A304E

c.911C>A

1 paper

NM_007200.5

p.P299L

c.896C>T

3 papers

NM_007200.5

p.Q305*

c.913C>T

1 paper

NM_007200.5

p.P307L

c.920C>T

3 papers

NM_007200.5

p.S308F

c.923C>T

1 paper

NM_007200.5

p.E312G

c.935A>G

1 paper

NM_007200.5

p.G315_L318del4

c.943_953del12

2 papers

NM_007200.5

p.F317L

c.949T>C

2 papers

NM_007200.5

p.F317V

c.949T>G

2 papers

NM_007200.5

p.F317L

c.951T>A