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.E899A

c.2696A>C

Surrounding Variants

1 paper

NM_005751.5

p.L902V

c.2704T>G

1 paper

NM_005751.5

p.L893R

c.2678T>G

1 paper

NM_005751.5

p.S891R

c.2673T>A

1 paper

NM_005751.5

p.S891R

c.2673T>G

1 paper

NM_005751.5

p.S891R

c.2671A>C

1 paper

NM_005751.5

p.S914C

c.2740A>T

1 paper

NM_005751.5

p.S915F

c.2744C>T

1 paper

NM_005751.5

p.D918V

c.2753A>T

1 paper

NM_005751.5

p.D876_L878del3

c.2626_2633del9

1 paper

NM_005751.5

p.V874I

c.2620G>A

3 papers

NM_005751.5

p.K873R

c.2618A>G

5 papers

NM_005751.5

p.C870Y

c.2609G>A