Varaico: Literature-Extracted Genetic Variants

Gene:AKAP6

AKAP6

219 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

Spectrinaa 779–884UCSCSpectrin repeat

Gene Aliases

HGNC Name

A-kinase anchoring protein 6

HGNC Alias Symbols

KIAA0311; mAKAP; AKAP100; PRKA6; ADAP6

Papers
RefSeq ID
Protein change
DNA change
1–12 of 285 variants
5 papers
NM_004274.5
p.N2035D
c.6103A>G
4 papers
NM_004274.5
p.A337V
c.1010C>T
4 papers
NM_004274.5
p.Q639K
c.1915C>A
4 papers
NM_004274.5
p.V839A
c.2516T>C
4 papers
NM_004274.5
p.M1482I
c.4446G>A
4 papers
NM_004274.5
p.M1482I
c.4446G>C
4 papers
NM_004274.5
p.M1482I
c.4446G>T
3 papers
NM_004274.5
p.N139S
c.416A>G
3 papers
NM_004274.5
p.N408S
c.1223A>G
3 papers
NM_004274.5
p.V1522I
c.4564G>A
3 papers
NM_004274.5
p.S1653R
c.4957A>C
3 papers
NM_004274.5
p.S1653R
c.4959T>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."