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.Q19_F20delFs

c.57_58delGT

Surrounding Variants

1 paper

NM_005751.5

p.Q19R

c.56A>G

1 paper

NM_005751.5

p.A18P

c.52G>C

1 paper

NM_005751.5

p.A18S

c.52G>T

1 paper

NM_005751.5

p.R21Q

c.62G>A

1 paper

NM_005751.5

p.Q22E

c.64C>G

1 paper

NM_005751.5

p.K24E

c.70A>G

1 paper

NM_005751.5

p.S27A

c.79T>G

4 papers

NM_005751.5

p.S27L

c.80C>T

1 paper

NM_005751.5

p.D28V

c.83A>T

1 paper

NM_005751.5

p.Q30L

c.89A>T

1 paper

NM_005751.5

p.K34M

c.101A>T

1 paper

NM_005751.5

p.Q36fs

c.106_107fs