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.L839I

c.2515C>A

Surrounding Variants

1 paper

NM_005751.5

p.Q838*

c.2512C>T

1 paper

NM_005751.5

p.N840T

c.2519A>C

1 paper

NM_005751.5

p.E841V

c.2522A>T

1 paper

NM_005751.5

p.Q834_Q835insCAA

c.2500_2504ins9

1 paper

NM_005751.5

p.Q834*

c.2500C>T

1 paper

NM_005751.5

p.E830_D831insFs

c.2490_2491insT

1 paper

NM_005751.5

p.T849A

c.2545A>G

1 paper

NM_005751.5

p.N829Y

c.2485A>T

1 paper

NM_005751.5

p.I826M

c.2478A>G

1 paper

NM_005751.5

p.S851S

c.2553A>G

2 papers

NM_005751.5

p.I826T

c.2477T>C

1 paper

NM_005751.5

p.F852L

c.2554T>C