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.P816S

c.2446C>T

Surrounding Variants

1 paper

NM_007200.5

p.T820A

c.2458A>G

1 paper

NM_007200.5

p.T820T

c.2460A>T

1 paper

NM_007200.5

p.Y824F

c.2471A>T

1 paper

NM_007200.5

p.P828P

c.2484A>C

1 paper

NM_007200.5

p.N831D

c.2491A>G

1 paper

NM_007200.5

p.D800_A801delFs

c.2398_2401del4

1 paper

NM_007200.5

p.T837K

c.2510C>A

2 papers

NM_007200.5

p.T837M

c.2510C>T

1 paper

NM_007200.5

p.R838Q

c.2513G>A

1 paper

NM_007200.5

p.A788T

c.2362G>A

3 papers

NM_007200.5

p.V845A

c.2534T>C

1 paper

NM_007200.5

p.F785L

c.2355C>A