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.H1566N

c.4696C>A

Surrounding Variants

2 papers

NM_005751.5

p.S1564_I1565Splc

c.4693-1G>T

1 paper

NM_005751.5

p.I1569V

c.4705A>G

1 paper

NM_005751.5

p.I1569M

c.4707T>G

1 paper

NM_005751.5

p.S1564_I1565Splc

c.4693-10A>T

25 papers

NM_005751.5

p.S1570L

c.4709C>T

1 paper

NM_005751.5

p.S1573S

c.4719C>T

1 paper

NM_005751.5

p.E1584K

c.4750G>A

1 paper

NM_005751.5

p.E1584*

c.4750G>T

2 papers

NM_005751.5

p.E1585A

c.4754A>C

1 paper

NM_005751.5

p.L1587F

c.4761G>C

1 paper

NM_005751.5

p.L1587F

c.4761G>T

1 paper

NM_005751.5

p.D1589N

c.4765G>A