Varaico: Literature-Extracted Genetic Variants

AKAP12

161 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 holoe...

Pfam Domains

WSKaa 605–633UCSCWSK motif

WSKaa 754–782UCSCWSK motif

WSKaa 799–826UCSCWSK motif

Gene Aliases

HGNC Name

A-kinase anchoring protein 12

HGNC Alias Symbols

AKAP250; SSeCKS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_144497.2

p.S986L

c.2957C>T

Surrounding Variants

1 paper

NM_005100.4

p.V1096I

c.3286G>A

1 paper

NM_005100.4

p.Q1070H

c.3210G>C

1 paper

NM_005100.4

p.Q1099E

c.3295C>G

1 paper

NM_005100.4

p.R1038Q

c.3113G>A

1 paper

NM_005100.4

p.R1038W

c.3112C>T

1 paper

NM_005100.4

p.M1152_S1162del11

c.3454_3485del33

1 paper

NM_005100.4

p.M1152_S1162del0

c.3456_3485del30

1 paper

NM_005100.4

p.D1014D

c.3042C>T

1 paper

NM_005100.4

p.A1157P

c.3469G>C

1 paper

NM_005100.4

p.A995S

c.2983G>T

1 paper

NM_005100.4

p.F1180L

c.3538T>C

1 paper

NM_005100.4

p.F1180L

c.3540T>A