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.L640P

c.1919T>C

Surrounding Variants

1 paper

NM_005751.5

p.E642K

c.1924G>A

1 paper

NM_005751.5

p.L644V

c.1930T>G

1 paper

NM_005751.5

p.E636K

c.1906G>A

1 paper

NM_005751.5

p.I646V

c.1936A>G

2 papers

NM_005751.5

p.E634K

c.1900G>A

1 paper

NM_005751.5

p.R649*

c.1945C>T

1 paper

NM_005751.5

p.R649Q

c.1946G>A

1 paper

NM_005751.5

p.F631S

c.1892T>C

1 paper

NM_005751.5

p.K654K

c.1962A>G

1 paper

NM_005751.5

p.L655R

c.1964T>G

1 paper

NM_005751.5

p.L659I

c.1975T>A

1 paper

NM_005751.5

p.E621_L622delFs

c.1863_1864delAT