Varaico: Literature-Extracted Genetic Variants

AKAP9

643 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

AKAP9_coil_Naa 219–311UCSCAKAP9 N-terminal coiled coil domain

AKAP9_Caa 1243–1290UCSCAKAP9 C-terminal domain

PACT_coil_coilaa 1919–2000UCSCPericentrin-AKAP-450 domain of centrosomal targeting protein

Gene Aliases

HGNC Name

A-kinase anchoring protein 9

HGNC Alias Symbols

KIAA0803; AKAP350; AKAP450; CG-NAP; YOTIAO; HYPERION; PRKA9; MU-RMS-40.16A; PPP1R45; LQT11

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005751.5

p.N856delFs

c.2567delA

Surrounding Variants

2 papers

NM_005751.5

p.E854insFs

c.2561dupA

2 papers

NM_005751.5

p.E854fs

c.2560_2561fs

1 paper

NM_005751.5

p.F852L

c.2556T>A

1 paper

NM_005751.5

p.F852L

c.2556T>G

1 paper

NM_005751.5

p.N856fs

c.2566_2567fs

1 paper

NM_005751.5

p.F852L

c.2554T>C

1 paper

NM_005751.5

p.S851S

c.2553A>G

1 paper

NM_005751.5

p.T849A

c.2545A>G

3 papers

NM_005751.5

p.Y861H

c.2581T>C

1 paper

NM_005751.5

p.Q862delFs

c.2585_2586delAA

1 paper

NM_005751.5

p.Q862fs

c.2584_2585fs

1 paper

NM_005751.5

p.E863D

c.2589G>C