Varaico: Literature-Extracted Genetic Variants

Gene:AKAP8
Variant:p.Y311F

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
2 papers
NM_005858.4
p.Y311F
c.932A>T
Surrounding Variants
1 paper
NM_005858.4
p.G300S
c.898G>A
1 paper
NM_005858.4
p.P298P
c.894A>G
1 paper
NM_005858.4
p.D326Y
c.976G>T
2 papers
NM_005858.4
p.R295C
c.883C>T
1 paper
NM_005858.4
p.R290S
c.870G>T
1 paper
NM_005858.4
p.R290S
c.870G>C
1 paper
NM_005858.4
p.E342V
c.1025A>T
1 paper
NM_005858.4
p.R287W
c.859C>T
1 paper
NM_005858.4
p.G263E
c.788G>A
1 paper
NM_005858.4
p.V258L
c.772G>T
1 paper
NM_005858.4
p.V258L
c.772G>C
1 paper
NM_005858.4
p.P240H
c.719C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."