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.E1064K

c.3190G>A

Surrounding Variants

4 papers

NM_005751.5

p.S1065G

c.3193A>G

1 paper

NM_005751.5

p.L1070F

c.3210G>C

1 paper

NM_005751.5

p.L1070F

c.3210G>T

1 paper

NM_005751.5

p.S1055Y

c.3164C>A

1 paper

NM_005751.5

p.S1055C

c.3164C>G

1 paper

NM_005751.5

p.H1074R

c.3221A>G

1 paper

NM_005751.5

p.M1049I

c.3147G>A

1 paper

NM_005751.5

p.M1049I

c.3147G>C

1 paper

NM_005751.5

p.M1049I

c.3147G>T

1 paper

NM_005751.5

p.M1049fs

c.3145_3146fs

1 paper

NM_005751.5

p.T1087delFs

c.3259delA

1 paper

NM_005751.5

p.T1087I

c.3260C>T