Varaico: Literature-Extracted Genetic Variants

Gene:AKAP8
Variant:p.Q169*

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.Q169*
c.505C>T
Surrounding Variants
2 papers
NM_005858.4
p.Y170F
c.509A>T
1 paper
NM_005858.4
p.R174Q
c.521G>A
3 papers
NM_005858.4
p.Y154F
c.461A>T
3 papers
NM_005858.4
p.Y152F
c.455A>T
2 papers
NM_005858.4
p.Y150F
c.449A>T
1 paper
NM_005858.4
p.R188R
c.564G>T
1 paper
NM_005858.4
p.S149T
c.446G>C
1 paper
NM_005858.4
p.G181_G189del9
c.541_566del27
1 paper
NM_005858.4
p.R147L
c.440G>T
1 paper
NM_005858.4
p.G191S
c.571G>A
3 papers
NM_005858.4
p.Y146F
c.437A>T
1 paper
NM_005858.4
p.P141_E142insFs
c.423_424ins4
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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."