Varaico: Literature-Extracted Genetic Variants

Gene:AKAP8
Variant:p.Q664H

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.Q664H
c.1992A>C
Surrounding Variants
1 paper
NM_005858.4
p.Q664H
c.1992A>T
1 paper
NM_005858.4
p.E661Q
c.1981G>C
1 paper
NM_005858.4
p.E648K
c.1942G>A
1 paper
NM_005858.4
p.D682N
c.2044G>A
1 paper
NM_005858.4
p.A646G
c.1937C>G
1 paper
NM_005858.4
p.A683G
c.2048C>G
1 paper
NM_005858.4
p.E684G
c.2051A>G
1 paper
NM_005858.4
p.A688T
c.2062G>A
1 paper
NM_005858.4
p.P640R
c.1919C>G
1 paper
NM_005858.4
p.E636Q
c.1906G>C
1 paper
NM_005858.4
p.H635fs
c.1903_1904fs
1 paper
NM_005858.4
p.P630P
c.1890C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."