Varaico: Literature-Extracted Genetic Variants

Gene:AKAP1

AKAP1

99 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

KH_1aa 609–673UCSCKH domain
TUDORaa 704–828UCSCTudor domain

Gene Aliases

HGNC Name

A-kinase anchoring protein 1

HGNC Previous Symbol

PRKA1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 97 variants
3 papers
NM_003488.4
p.D126D
c.378T>C
2 papers
NM_003488.4
p.A18V
c.53C>T
2 papers
NM_003488.4
p.V155A
c.464T>C
2 papers
NM_003488.4
p.V184I
c.550G>A
2 papers
NM_003488.4
p.D297D
c.891T>C
2 papers
NM_003488.4
p.A348T
c.1042G>A
2 papers
NM_003488.4
p.R621W
c.1861C>T
2 papers
NM_003488.4
p.G798R
c.2392G>A
2 papers
NM_003488.4
p.G798R
c.2392G>C
1 paper
NM_003488.4
p.R6S
c.16C>A
1 paper
NM_003488.4
p.G15W
c.43G>T
1 paper
NM_003488.4
p.A18A
c.54G>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."