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.L404insFs

c.1211dupT

Surrounding Variants

1 paper

NM_005751.5

p.L404fs

c.1210_1211fs

4 papers

NM_005751.5

p.E402K

c.1204G>A

1 paper

NM_005751.5

p.R407I

c.1220G>T

1 paper

NM_005751.5

p.N408S

c.1223A>G

1 paper

NM_005751.5

p.H409D

c.1225C>G

1 paper

NM_005751.5

p.M398V

c.1192A>G

1 paper

NM_005751.5

p.K410I

c.1229A>T

1 paper

NM_005751.5

p.Q413*

c.1237C>T

1 paper

NM_005751.5

p.F414F

c.1242C>T

1 paper

NM_005751.5

p.S390F

c.1169C>T

1 paper

NM_005751.5

p.S390P

c.1168T>C

1 paper

NM_005751.5

p.R388K

c.1163G>A