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

3 papers

NM_007200.5

p.W494R

c.1480T>C

Surrounding Variants

2 papers

NM_007200.5

p.W494R

c.1480T>A

1 paper

NM_007200.5

p.T492A

c.1474A>G

1 paper

NM_007200.5

p.R507R

c.1521A>G

1 paper

NM_007200.5

p.F508del1

c.1522_1523delTTT

1 paper

NM_007200.5

p.D477N

c.1429G>A

1 paper

NM_007200.5

p.T524del1

c.1570_1571delACA

1 paper

NM_007200.5

p.S525_K526del2

c.1573_1577del6

6 papers

NM_007200.5

p.K526Q

c.1576A>C

1 paper

NM_007200.5

p.G462*

c.1384G>T

5 papers

NM_007200.5

p.M452T

c.1355T>C

1 paper

NM_007200.5

p.A537V

c.1610C>T

1 paper

NM_007200.5

p.D449D

c.1347C>T