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.S2398_H2401del4

c.7192_7202del12

Surrounding Variants

1 paper

NM_007200.5

p.P2392R

c.7175C>G

3 papers

NM_007200.5

p.E2363D

c.7089A>C

3 papers

NM_007200.5

p.E2363D

c.7089A>C

3 papers

NM_007200.5

p.E2363D

c.7089A>T

1 paper

NM_007200.5

p.T2334N

c.7001C>A

1 paper

NM_007200.5

p.I2332M

c.6996C>G

1 paper

NM_007200.5

p.W2324L

c.6971G>T

1 paper

NM_007200.5

p.E2319A

c.6956A>C

5 papers

NM_006738.6

p.G2461S

c.7381G>A

NM_007200.5

p.G2457S

c.7369G>A

1 paper

NM_007200.5

p.R2463W

c.7387C>T

1 paper

NM_007200.5

p.E2519_Q2520Splc

c.7557+120A>G

1 paper

NM_006738.6

p.L2236V

c.6706C>G