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

4 papers

NM_007200.5

p.M280T

c.839T>C

Surrounding Variants

1 paper

NM_007200.5

p.N281K

c.843C>A

1 paper

NM_007200.5

p.N281K

c.843C>G

1 paper

NM_007200.5

p.Q283K

c.847C>A

1 paper

NM_007200.5

p.Q283Q

c.849A>G

3 papers

NM_007200.5

p.Q285K

c.853C>A

2 papers

NM_007200.5

p.M287_K288Splc

c.861+5G>C

1 paper

NM_007200.5

p.G271R

c.811G>C

1 paper

NM_007200.5

p.G271delFs

c.811delG

1 paper

NM_007200.5

p.G269R

c.805G>A

1 paper

NM_007200.5

p.G269R

c.805G>C

1 paper

NM_007200.5

p.P268delFs

c.802delC

1 paper

NM_007200.5

p.E258K

c.772G>A