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.T1025fs

c.3073_3074fs

Surrounding Variants

1 paper

NM_005751.5

p.T1025A

c.3073A>G

1 paper

NM_005751.5

p.T1025_M1026delFs

c.3075_3076delCA

3 papers

NM_005751.5

p.T1025T

c.3075C>T

1 paper

NM_005751.5

p.G1022V

c.3065G>T

2 papers

NM_005751.5

p.L1019V

c.3055T>G

1 paper

NM_005751.5

p.V1016fs

c.3046_3047fs

1 paper

NM_005751.5

p.Q1015H

c.3045A>C

1 paper

NM_005751.5

p.Q1015H

c.3045A>T

1 paper

NM_005751.5

p.V1016_S1017delFs

c.3047_3050del4

1 paper

NM_005751.5

p.S1036F

c.3107C>T

1 paper

NM_005751.5

p.D1013N

c.3037G>A

1 paper

NM_005751.5

p.C1012*

c.3036T>A