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.Q1353R

c.4058A>G

Surrounding Variants

1 paper

NM_005751.5

p.T1357S

c.4069A>T

1 paper

NM_005751.5

p.T1357S

c.4070C>G

2 papers

NM_005751.5

p.I1347ins1

c.4039_4040insAAC

1 paper

NM_005751.5

p.Y1361C

c.4082A>G

1 paper

NM_005751.5

p.E1342G

c.4025A>G

3 papers

NM_005751.5

p.Q1341H

c.4023A>C

3 papers

NM_005751.5

p.Q1341H

c.4023A>T

1 paper

NM_005751.5

p.Q1341K

c.4021C>A

1 paper

NM_005751.5

p.H1366R

c.4097A>G

1 paper

NM_005751.5

p.E1337_E1338ins1

c.4011_4012insCAA

1 paper

NM_005751.5

p.L1336ins1

c.4006_4007insAAA

1 paper

NM_005751.5

p.L1336ins1

c.4006_4007insAAG