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

8 papers

NM_005751.5

p.M1400T

c.4199T>C

Surrounding Variants

2 papers

NM_005751.5

p.Q1397R

c.4190A>G

1 paper

NM_005751.5

p.Q1397E

c.4189C>G

1 paper

NM_005751.5

p.D1395H

c.4183G>C

1 paper

NM_005751.5

p.V1406L

c.4216G>C

1 paper

NM_005751.5

p.D1411ins1

c.4231_4232insAAC

2 papers

NM_005751.5

p.S1388L

c.4163C>T

1 paper

NM_005751.5

p.S1383Splc

c.4149-59C>G

2 papers

NM_005751.5

p.E1415_F1416Splc

c.4246-6A>T

1 paper

NM_005751.5

p.G1418D

c.4253G>A

1 paper

NM_005751.5

p.E1425K

c.4273G>A

1 paper

NM_005751.5

p.E1425G

c.4274A>G

1 paper

NM_005751.5

p.N1427S

c.4280A>G