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.D1251Splc

c.3752-3C>A

Surrounding Variants

1 paper

NM_005751.5

p.D1251Splc

c.3752-1G>A

1 paper

NM_005751.5

p.F1252I

c.3754T>A

1 paper

NM_005751.5

p.E1265K

c.3793G>A

1 paper

NM_005751.5

p.L1271F

c.3813G>C

1 paper

NM_005751.5

p.L1271F

c.3813G>T

13 papers

NM_005751.5

p.R1276Q

c.3827G>A

2 papers

NM_005751.5

p.R1246G

c.3736A>G

1 paper

NM_005751.5

p.E1236D

c.3708A>C

2 papers

NM_005751.5

p.E1236D

c.3708A>T

1 paper

NM_005751.5

p.E1225K

c.3673G>A

1 paper

NM_005751.5

p.D1226_N1229delFs

c.3676_3686del11

1 paper

NM_005751.5

p.C1220Y

c.3659G>A