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.Y1436C

c.4307A>G

Surrounding Variants

1 paper

NM_005751.5

p.K1434K

c.4302A>G

1 paper

NM_005751.5

p.E1438K

c.4312G>A

2 papers

NM_005751.5

p.L1440_E1441del2

c.4318_4322del6

1 paper

NM_005751.5

p.E1433Q

c.4297G>C

2 papers

NM_005751.5

p.L1440_E1441del1

c.4320_4322delAGA

1 paper

NM_005751.5

p.E1441V

c.4322A>T

1 paper

NM_005751.5

p.E1443V

c.4328A>T

1 paper

NM_005751.5

p.V1444A

c.4331T>C

1 paper

NM_005751.5

p.N1427S

c.4280A>G

1 paper

NM_005751.5

p.E1425G

c.4274A>G

1 paper

NM_005751.5

p.E1425K

c.4273G>A

1 paper

NM_005751.5

p.G1418D

c.4253G>A