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_005100.4

p.S1331F

c.3992C>T

Surrounding Variants

1 paper

NM_005100.4

p.P1329L

c.3986C>T

2 papers

NM_005100.4

p.K1327T

c.3980A>C

1 paper

NM_005100.4

p.H1325H

c.3975C>T

1 paper

NM_005100.4

p.E1347*

c.4039G>T

1 paper

NM_005100.4

p.E1347D

c.4041A>C

1 paper

NM_005100.4

p.E1347D

c.4041A>T

1 paper

NM_005100.4

p.E1355K

c.4063G>A

1 paper

NM_005100.4

p.G1306C

c.3916G>T

1 paper

NM_005100.4

p.E1359A

c.4076A>C

1 paper

NM_005100.4

p.E1368E

c.4104A>G

1 paper

NM_005100.4

p.I1288delFs

c.3862delA

1 paper

NM_005100.4

p.S1287F

c.3860C>T