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.L2720_V2721Splc

c.8161-6T>A

Surrounding Variants

3 papers

NM_005751.5

p.Q2730R

c.8189A>G

1 paper

NM_005751.5

p.V2736G

c.8207T>G

1 paper

NM_005751.5

p.A2741T

c.8221G>A

1 paper

NM_005751.5

p.A2741S

c.8221G>T

1 paper

NM_005751.5

p.E2742*

c.8224G>T

1 paper

NM_005751.5

p.L2750I

c.8248T>A

2 papers

NM_005751.5

p.K2762N

c.8286A>C

2 papers

NM_005751.5

p.K2762N

c.8286A>T

2 papers

NM_005751.5

p.T2782I

c.8345C>T

24 papers

NM_005751.5

p.N2792S

c.8375A>G

1 paper

NM_005751.5

p.I2820M

c.8460A>G

1 paper

NM_005751.5

p.Q2823R

c.8468A>G