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.D2798Splc

c.8393-1G>C

Surrounding Variants

1 paper

NM_007200.5

p.I2811_F2812del1

c.8432_8434delTCT

1 paper

NM_007200.5

p.K2785fs

c.8353_8354fs

1 paper

NM_007200.5

p.R2736W

c.8206C>T

1 paper

NM_007200.5

p.P2708L

c.8123C>T

2 papers

NM_007200.5

p.R2682W

c.8044C>T

1 paper

NM_007200.5

p.Q2679L

c.8036A>T

1 paper

NM_007200.5

p.Q2631H

c.7893G>C

1 paper

NM_007200.5

p.Q2631H

c.7893G>T

1 paper

NM_007200.5

p.Q2628H

c.7884G>C

1 paper

NM_006738.6

p.E2618K

c.7852G>A

1 paper

NM_007200.5

p.A2534T

c.7600G>A

1 paper

NM_007200.5

p.E2519_Q2520Splc

c.7557+120A>G