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.V1141L

c.3421G>C

Surrounding Variants

1 paper

NM_007200.5

p.V1141L

c.3421G>T

1 paper

NM_007200.5

p.D1138G

c.3413A>G

1 paper

NM_007200.5

p.D1138Y

c.3412G>T

1 paper

NM_007200.5

p.L1136V

c.3406C>G

1 paper

NM_007200.5

p.A1135G

c.3404C>G

1 paper

NM_007200.5

p.L1132S

c.3395T>C

1 paper

NM_007200.5

p.E1151K

c.3451G>A

1 paper

NM_007200.5

p.E1151ins1

c.3452_3453insGAT

1 paper

NM_007200.5

p.P1154S

c.3460C>T

1 paper

NM_007200.5

p.E1125delFs

c.3374delA

1 paper

NM_007200.5

p.K1161E

c.3481A>G

1 paper

NM_007200.5

p.T1112del1

c.3334_3336delACC