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.G380A

c.1139G>C

Surrounding Variants

1 paper

NM_007200.5

p.K379E

c.1135A>G

1 paper

NM_007200.5

p.P387L

c.1160C>T

1 paper

NM_007200.5

p.C369R

c.1105T>C

1 paper

NM_007200.5

p.V394L

c.1180G>C

1 paper

NM_007200.5

p.V394L

c.1180G>T

1 paper

NM_007200.5

p.Q397K

c.1189C>A

1 paper

NM_007200.5

p.E362insFs

c.1084_1085insC

1 paper

NM_007200.5

p.E362fs

c.1084_1085fs

2 papers

NM_007200.5

p.E361del1

c.1081_1083delGAG

1 paper

NM_007200.5

p.I359fs

c.1075_1076fs

1 paper

NM_007200.5

p.I359_V360delFs

c.1076_1079del4

1 paper

NM_007200.5

p.D355insFs

c.1064_1065insT