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.L184_Q185insFs

c.552_553ins4

Surrounding Variants

1 paper

NM_007200.5

p.L184_A192delFs

c.552_574del23

1 paper

NM_007200.5

p.G188R

c.562G>C

3 papers

NM_007200.5

p.R190C

c.568C>T

2 papers

NM_007200.5

p.G191R

c.571G>A

2 papers

NM_007200.5

p.G191R

c.571G>C

1 paper

NM_007200.5

p.R178T

c.533G>C

2 papers

NM_007200.5

p.A192T

c.574G>A

1 paper

NM_007200.5

p.A192ins2

c.574_575ins6

1 paper

NM_007200.5

p.G175_L176ins15

c.523_527ins45

1 paper

NM_007200.5

p.L174P

c.521T>C

1 paper

NM_007200.5

p.L174_G175insT

c.520_524ins3

1 paper

NM_007200.5

p.I195T

c.584T>C