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.N335Fs

c.1003delinsGAFs

Surrounding Variants

1 paper

NM_005751.5

p.T336I

c.1007C>T

1 paper

NM_005751.5

p.E340*

c.1018G>T

1 paper

NM_005751.5

p.E341V

c.1022A>T

1 paper

NM_005751.5

p.K343N

c.1029G>C

1 paper

NM_005751.5

p.K343N

c.1029G>T

1 paper

NM_005751.5

p.Q325P

c.974A>C

1 paper

NM_005751.5

p.Q325delFs

c.974delA

1 paper

NM_005751.5

p.Q325fs

c.973_974fs

6 papers

NM_005751.5

p.I324T

c.971T>C

1 paper

NM_005751.5

p.E323*

c.967G>T

1 paper

NM_005751.5

p.L346L

c.1038T>A

1 paper

NM_005751.5

p.K321_E322delFs

c.963_966del4