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.A355T

c.1063G>A

Surrounding Variants

1 paper

NM_005751.5

p.D356V

c.1067A>T

1 paper

NM_005751.5

p.L359V

c.1075C>G

1 paper

NM_005751.5

p.D350Y

c.1048G>T

1 paper

NM_005751.5

p.E361*

c.1081G>T

1 paper

NM_005751.5

p.L346L

c.1038T>A

1 paper

NM_005751.5

p.I366V

c.1096A>G

1 paper

NM_005751.5

p.K343N

c.1029G>C

1 paper

NM_005751.5

p.K343N

c.1029G>T

2 papers

NM_005751.5

p.V367M

c.1099G>A

1 paper

NM_005751.5

p.Q368*

c.1102C>T

1 paper

NM_005751.5

p.E341V

c.1022A>T

1 paper

NM_005751.5

p.E340*

c.1018G>T