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.E986G

c.2957A>G

Surrounding Variants

1 paper

NM_005751.5

p.E988D

c.2964A>C

1 paper

NM_005751.5

p.E988E

c.2964A>G

1 paper

NM_005751.5

p.E988D

c.2964A>T

2 papers

NM_005751.5

p.S982Y

c.2945C>A

1 paper

NM_005751.5

p.E978*

c.2932G>T

1 paper

NM_005751.5

p.N977S

c.2930A>G

1 paper

NM_005751.5

p.A1006S

c.3016G>T

1 paper

NM_005751.5

p.E1007D

c.3021A>C

1 paper

NM_005751.5

p.E1007D

c.3021A>T

1 paper

NM_005751.5

p.S963_L966del4

c.2887_2897del12

1 paper

NM_005751.5

p.S1011_C1012delFs

c.3033_3034delAT

1 paper

NM_005751.5

p.C1012*

c.3036T>A