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.R548G

c.1642A>G

Surrounding Variants

1 paper

NM_005751.5

p.T550_I551delFs

c.1650_1651delAA

1 paper

NM_005751.5

p.I551V

c.1651A>G

1 paper

NM_005751.5

p.E542K

c.1624G>A

1 paper

NM_005751.5

p.K557E

c.1669A>G

1 paper

NM_005751.5

p.L537F

c.1611G>C

1 paper

NM_005751.5

p.L537F

c.1611G>T

1 paper

NM_005751.5

p.L558R

c.1673T>G

1 paper

NM_005751.5

p.H562R

c.1685A>G

1 paper

NM_005751.5

p.H562Q

c.1686T>A

2 papers

NM_005751.5

p.H562Q

c.1686T>G

1 paper

NM_005751.5

p.L533V

c.1597C>G

1 paper

NM_005751.5

p.L565F

c.1693C>T