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

8 papers

NM_005751.5

p.H47Y

c.139C>T

Surrounding Variants

1 paper

NM_005751.5

p.H47Q

c.141T>A

1 paper

NM_005751.5

p.D48delFs

c.143delA

1 paper

NM_005751.5

p.A51P

c.151G>C

2 papers

NM_005751.5

p.S43A

c.127T>G

1 paper

NM_005751.5

p.T42A

c.124A>G

1 paper

NM_005751.5

p.K41N

c.123A>C

1 paper

NM_005751.5

p.K41N

c.123A>T

4 papers

NM_005751.5

p.R40K

c.119G>A

1 paper

NM_005751.5

p.D54fs

c.160_161fs

1 paper

NM_005751.5

p.K39fs

c.115_116fs

1 paper

NM_005751.5

p.K39E

c.115A>G

2 papers

NM_005751.5

p.K39fs

c.115_116fs