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

15 papers

NM_005751.5

p.P2979S

c.8935C>T

Surrounding Variants

1 paper

NM_005751.5

p.E2983Q

c.8947G>C

1 paper

NM_005751.5

p.E2983D

c.8949G>C

1 paper

NM_005751.5

p.E2983D

c.8949G>T

2 papers

NM_005751.5

p.R2984S

c.8952A>C

1 paper

NM_005751.5

p.H2971R

c.8912A>G

2 papers

NM_005751.5

p.H2971Y

c.8911C>T

1 paper

NM_005751.5

p.S2992L

c.8975C>T

2 papers

NM_005751.5

p.S2992S

c.8976A>C

1 paper

NM_005751.5

p.L2997V

c.8989T>G

1 paper

NM_005751.5

p.K3000Q

c.8998A>C

1 paper

NM_005751.5

p.E3008Q

c.9022G>C

1 paper

NM_005751.5

p.G2945R

c.8833G>A