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

2 papers

NM_007200.5

p.Y253F

c.758A>T

Surrounding Variants

2 papers

NM_007200.5

p.Y253H

c.757T>C

1 paper

NM_007200.5

p.E249A

c.746A>C

1 paper

NM_007200.5

p.E258K

c.772G>A

1 paper

NM_007200.5

p.R248Q

c.743G>A

1 paper

NM_007200.5

p.R248L

c.743G>T

1 paper

NM_007200.5

p.R245_L250del0

c.734_748del15

1 paper

NM_007200.5

p.V244M

c.730G>A

1 paper

NM_007200.5

p.C242Y

c.725G>A

1 paper

NM_007200.5

p.P268delFs

c.802delC

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.G271delFs

c.811delG