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.I1749S

c.5246T>G

Surrounding Variants

10 papers

NM_005751.5

p.I1749T

c.5246T>C

1 paper

NM_005751.5

p.G1750V

c.5249G>T

4 papers

NM_005751.5

p.R1751C

c.5251C>T

1 paper

NM_005751.5

p.R1751H

c.5252G>A

1 paper

NM_005751.5

p.A1744S

c.5230G>T

2 papers

NM_005751.5

p.A1743V

c.5228C>T

1 paper

NM_005751.5

p.T1741K

c.5222C>A

1 paper

NM_005751.5

p.L1757R

c.5270T>G

1 paper

NM_005751.5

p.D1758H

c.5272G>C

2 papers

NM_005751.5

p.K1762E

c.5284A>G

1 paper

NM_005751.5

p.N1729_R1730insFs

c.5187_5188dupTA

1 paper

NM_005751.5

p.I1770F

c.5308A>T