Varaico: Literature-Extracted Genetic Variants

Gene:AKNAD1
Variant:p.Y249N

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.Y249N
c.745T>A
Surrounding Variants
1 paper
NM_152763.5
p.G252D
c.755G>A
3 papers
NM_152763.5
p.H255Y
c.763C>T
1 paper
NM_152763.5
p.S232A
c.694T>G
1 paper
NM_152763.5
p.K226N
c.678A>T
1 paper
NM_152763.5
p.K226N
c.678A>C
1 paper
NM_152763.5
p.S289F
c.866C>T
1 paper
NM_152763.5
p.D205_S206insFs
c.615_616ins4
1 paper
NM_152763.5
p.G204_D205delFs
c.610_613del4
1 paper
NM_152763.5
p.G199insFs
c.595_596insCT
1 paper
NM_152763.5
p.G199R
c.595G>C
1 paper
NM_152763.5
p.G199R
c.595G>A
1 paper
NM_152763.5
p.A187P
c.559G>C
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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."