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

32 papers

NM_005751.5

p.M463I

c.1389G>A

Surrounding Variants

32 papers

NM_005751.5

p.M463I

c.1389G>C

33 papers

NM_005751.5

p.M463I

c.1389G>T

1 paper

NM_005751.5

p.E462K

c.1384G>A

2 papers

NM_005751.5

p.R466W

c.1396C>T

2 papers

NM_005751.5

p.R466Q

c.1397G>A

1 paper

NM_005751.5

p.M460V

c.1378A>G

2 papers

NM_005751.5

p.G469R

c.1405G>A

2 papers

NM_005751.5

p.G469R

c.1405G>C

4 papers

NM_005751.5

p.A458P

c.1372G>C

1 paper

NM_005751.5

p.G469A

c.1406G>C

1 paper

NM_005751.5

p.E451D

c.1353A>C

1 paper

NM_005751.5

p.E451D

c.1353A>T