Varaico: Literature-Extracted Genetic Variants

Gene:AKNAD1
Variant:p.T10K

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
Selected Variant
1 paper
NM_152763.5
p.T10K
c.29C>A
Surrounding Variants
1 paper
NM_152763.5
p.K13R
c.38A>G
1 paper
NM_152763.5
p.K13insFs
c.37dupA
1 paper
NM_152763.5
p.D5_F6insG
c.13_17ins3
1 paper
NM_152763.5
p.D16G
c.47A>G
1 paper
NM_152763.5
p.F34fs
c.100_101fs
2 papers
NM_152763.5
p.D53N
c.157G>A
9 papers
NM_152763.5
p.S61N
c.182G>A
1 paper
NM_152763.5
p.A80T
c.238G>A
1 paper
NM_152763.5
p.E88Q
c.262G>C
1 paper
NM_152763.5
p.E101K
c.301G>A
1 paper
NM_152763.5
p.D103D
c.309C>T
1 paper
NM_152763.5
p.L123delins
c.367_368delinsTC
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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."