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.T565fs

c.1693_1694fs

Surrounding Variants

1 paper

NM_007200.5

p.E567Q

c.1699G>C

1 paper

NM_007200.5

p.E563insFs

c.1688dupA

1 paper

NM_007200.5

p.N557N

c.1671T>C

1 paper

NM_007200.5

p.R574fs

c.1720_1721fs

1 paper

NM_007200.5

p.R574_E575ins6

c.1720_1724ins18

5 papers

NM_007200.5

p.R574C

c.1720C>T

1 paper

NM_007200.5

p.P548R

c.1643C>G

1 paper

NM_007200.5

p.V582I

c.1744G>A

1 paper

NM_007200.5

p.V582V

c.1746A>C

1 paper

NM_007200.5

p.Q584K

c.1750C>A

1 paper

NM_007200.5

p.V588L

c.1762G>C

1 paper

NM_007200.5

p.V588L

c.1762G>T