Varaico: Literature-Extracted Genetic Variants

Gene:AKAP5
Variant:p.S200N

AKAP5

100 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 76–102UCSCWSK motif

Gene Aliases

HGNC Name

A-kinase anchoring protein 5

HGNC Alias Symbols

AKAP75; AKAP79

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004857.3
p.S200N
c.599G>A
Surrounding Variants
1 paper
NM_004857.3
p.N201S
c.602A>G
1 paper
NM_004857.3
p.T203fs
c.607_608fs
1 paper
NM_004857.3
p.T203insFs
c.607_608insT
3 papers
NM_004857.3
p.T203I
c.608C>T
1 paper
NM_004857.3
p.S205F
c.614C>T
1 paper
NM_004857.3
p.G191G
c.573T>C
2 papers
NM_004857.3
p.R188Q
c.563G>A
1 paper
NM_004857.3
p.D217N
c.649G>A
1 paper
NM_004857.3
p.A222V
c.665C>T
1 paper
NM_004857.3
p.A173insFs
c.519dupA
1 paper
NM_004857.3
p.T235M
c.704C>T
1 paper
NM_004857.3
p.I236V
c.706A>G
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."