Varaico: Literature-Extracted Genetic Variants

Gene:AKAP8
Variant:p.M1K

AKAP8

77 papers

RefSeq Summary

This gene encodes a member of the A-kinase anchor protein family. A-kinase anchor proteins are scaffold proteins that contain a binding domain for the RI/RII subunit of protein kinase A (PKA) and recr...

Pfam Domains

AKAP95aa 415–546UCSCA-kinase anchoring protein 95 (AKAP95)

Gene Aliases

HGNC Name

A-kinase anchoring protein 8

HGNC Alias Symbols

AKAP95; DKFZp586B1222

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005858.4
p.M1K
c.2T>A
Surrounding Variants
1 paper
NM_005858.4
p.A21del1
c.61_63delTGC
1 paper
NM_005858.4
p.G23R
c.67G>A
1 paper
NM_005858.4
p.G23G
c.69A>G
1 paper
NM_005858.4
p.E33K
c.97G>A
1 paper
NM_005858.4
p.E33_N34insFs
c.99_100ins4
1 paper
NM_005858.4
p.Y35H
c.103T>C
1 paper
NM_005858.4
p.A40T
c.118G>A
1 paper
NM_005858.4
p.Y51F
c.152A>T
1 paper
NM_005858.4
p.Y53F
c.158A>T
1 paper
NM_005858.4
p.Y53Y
c.159C>T
1 paper
NM_005858.4
p.S57S
c.171G>A
1 paper
NM_005858.4
p.A61_A63del3
c.181_188del9
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