Varaico: Literature-Extracted Genetic Variants

Gene:AKNAD1

AKNAD1

87 papers

RefSeq Summary

This gene encodes a protein which contains a domain found in an AT-hook-containing transcription factor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012].

Pfam Domains

AKNAaa 327–421UCSCAT-hook-containing transcription factor

Gene Aliases

HGNC Name

AKNA domain containing 1

HGNC Previous Symbol

C1orf62

Papers
RefSeq ID
Protein change
DNA change
1–12 of 87 variants
9 papers
NM_152763.5
p.S61N
c.182G>A
9 papers
NM_152763.5
p.N616K
c.1848C>G
9 papers
NM_152763.5
p.N616K
c.1848C>A
4 papers
NM_152763.5
p.L352V
c.1054C>G
4 papers
NM_152763.5
p.C654Y
c.1961G>A
3 papers
NM_152763.5
p.H255Y
c.763C>T
3 papers
NM_152763.5
p.G559C
c.1675G>T
2 papers
NM_152763.5
p.D53N
c.157G>A
2 papers
NM_152763.5
p.P540L
c.1619C>T
2 papers
NM_152763.5
p.G559R
c.1675G>C
2 papers
NM_152763.5
p.G582V
c.1745G>T
2 papers
NM_152763.5
p.K620R
c.1859A>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."