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.K762E

c.2284A>G

Surrounding Variants

1 paper

NM_005751.5

p.M759T

c.2276T>C

1 paper

NM_005751.5

p.M759R

c.2276T>G

2 papers

NM_005751.5

p.D765E

c.2295T>A

2 papers

NM_005751.5

p.D765E

c.2295T>G

1 paper

NM_005751.5

p.E756K

c.2266G>A

1 paper

NM_005751.5

p.F770C

c.2309T>G

1 paper

NM_005751.5

p.L750fs

c.2248_2249fs

1 paper

NM_005751.5

p.Q749_L750delFs

c.2246_2250del5

1 paper

NM_005751.5

p.E747K

c.2239G>A

1 paper

NM_005751.5

p.E744K

c.2230G>A

1 paper

NM_005751.5

p.E742G

c.2225A>G

1 paper

NM_005751.5

p.L741R

c.2222T>G