Varaico: Literature-Extracted Genetic Variants

Gene:AKAP5
Variant:p.I144F

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.I144F
c.430A>T
Surrounding Variants
1 paper
NM_004857.3
p.S142A
c.424T>G
1 paper
NM_004857.3
p.G135G
c.405G>C
1 paper
NM_004857.3
p.E156_E157insG
c.466_470ins3
1 paper
NM_004857.3
p.E157*
c.469G>T
1 paper
NM_004857.3
p.A173insFs
c.519dupA
1 paper
NM_004857.3
p.A108T
c.322G>A
1 paper
NM_004857.3
p.E104K
c.310G>A
5 papers
NM_004857.3
p.P100L
c.299C>T
2 papers
NM_004857.3
p.R188Q
c.563G>A
1 paper
NM_004857.3
p.Q98Q
c.294A>G
1 paper
NM_004857.3
p.G191G
c.573T>C
1 paper
NM_004857.3
p.S95A
c.283T>G
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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."