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.D1330Y

c.3988G>T

Surrounding Variants

1 paper

NM_005751.5

p.Q1329L

c.3986A>T

1 paper

NM_005751.5

p.L1328L

c.3984G>T

1 paper

NM_005751.5

p.T1334fs

c.4000_4001fs

12 papers

NM_005751.5

p.K1335_L1336ins0

c.4004_4006dupAAC

2 papers

NM_005751.5

p.K1335_L1336insN

c.4003_4007ins3

1 paper

NM_005751.5

p.K1335Q

c.4003A>C

1 paper

NM_005751.5

p.K1335delins

c.4004delinsAAAC

1 paper

NM_005751.5

p.K1335R

c.4004A>G

1 paper

NM_005751.5

p.K1335I

c.4004A>T

1 paper

NM_005751.5

p.L1336ins1

c.4006_4007insAAA

1 paper

NM_005751.5

p.L1336ins1

c.4006_4007insAAG

1 paper

NM_005751.5

p.L1336ins1

c.4006_4007insAAT