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

1–12 of 1113 variants

33 papers

NM_005751.5

p.M463I

c.1389G>T

32 papers

NM_005751.5

p.M463I

c.1389G>A

32 papers

NM_005751.5

p.M463I

c.1389G>C

25 papers

NM_005751.5

p.S1570L

c.4709C>T

24 papers

NM_005751.5

p.N2792S

c.8375A>G

15 papers

NM_005751.5

p.P2979S

c.8935C>T

13 papers

NM_005751.5

p.R1276Q

c.3827G>A

12 papers

NM_005751.5

p.K1335_L1336ins0

c.4004_4006dupAAC

10 papers

NM_005751.5

p.R434W

c.1300C>T

10 papers

NM_005751.5

p.I1749T

c.5246T>C

8 papers

NM_005751.5

p.H47Y

c.139C>T

8 papers

NM_005751.5

p.M1400T

c.4199T>C