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.E2829Q

c.8485G>C

Surrounding Variants

2 papers

NM_005751.5

p.E2829K

c.8485G>A

1 paper

NM_005751.5

p.K2827N

c.8481A>C

1 paper

NM_005751.5

p.K2827N

c.8481A>T

1 paper

NM_005751.5

p.Q2823R

c.8468A>G

1 paper

NM_005751.5

p.I2820M

c.8460A>G

1 paper

NM_005751.5

p.E2838G

c.8513A>G

1 paper

NM_005751.5

p.M2842V

c.8524A>G

1 paper

NM_005751.5

p.E2851A

c.8552A>C

2 papers

NM_005751.5

p.Y2858C

c.8573A>G

1 paper

NM_005751.5

p.V2861F

c.8581G>T

24 papers

NM_005751.5

p.N2792S

c.8375A>G

2 papers

NM_005751.5

p.T2782I

c.8345C>T