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

1–12 of 400 variants

6 papers

NM_007200.5

p.K526Q

c.1576A>C

5 papers

NM_007200.5

p.K214E

c.640A>G

5 papers

NM_007200.5

p.M452T

c.1355T>C

5 papers

NM_007200.5

p.R574C

c.1720C>T

5 papers

NM_007200.5

p.G624V

c.1871G>T

5 papers

NM_007200.5

p.M1216T

c.3647T>C

4 papers

NM_007200.5

p.M280T

c.839T>C

4 papers

NM_007200.5

p.V897M

c.2689G>A

4 papers

NM_007200.5

p.P1062A

c.3184C>G

4 papers

NM_007200.5

p.D1086N

c.3256G>A

4 papers

NM_007200.5

p.G2457S

c.7369G>A

3 papers

NM_007200.5

p.L184_Q185insFs

c.552_553ins4