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.E1600K

c.4798G>A

Surrounding Variants

1 paper

NM_005751.5

p.E1600E

c.4800A>G

1 paper

NM_005751.5

p.Q1599K

c.4795C>A

1 paper

NM_005751.5

p.V1595L

c.4783G>C

1 paper

NM_005751.5

p.V1595L

c.4783G>T

1 paper

NM_005751.5

p.T1605M

c.4814C>T

1 paper

NM_005751.5

p.R1591K

c.4772G>A

1 paper

NM_005751.5

p.R1609delins

c.4825_4826delinsCA

4 papers

NM_005751.5

p.R1609K

c.4826G>A

1 paper

NM_005751.5

p.M1590fs

c.4768_4769fs

1 paper

NM_005751.5

p.M1590insFs

c.4768_4769insTG

1 paper

NM_005751.5

p.D1589N

c.4765G>A

1 paper

NM_005751.5

p.A1611E

c.4832C>A