Varaico: Literature-Extracted Genetic Variants

Gene:AKNAD1
Variant:p.L352V

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
4 papers
NM_152763.5
p.L352V
c.1054C>G
Surrounding Variants
1 paper
NM_152763.5
p.P357L
c.1070C>T
1 paper
NM_152763.5
p.S364S
c.1092C>A
1 paper
NM_152763.5
p.S367F
c.1100C>T
1 paper
NM_152763.5
p.C381R
c.1141T>C
1 paper
NM_152763.5
p.Q396R
c.1187A>G
1 paper
NM_152763.5
p.P407L
c.1220C>T
1 paper
NM_152763.5
p.H337Y
c.1009C>T
1 paper
NM_152763.5
p.S327delFs
c.979delA
1 paper
NM_152763.5
p.K322T
c.965A>C
1 paper
NM_152763.5
p.S289F
c.866C>T
3 papers
NM_152763.5
p.H255Y
c.763C>T
1 paper
NM_152763.5
p.G252D
c.755G>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."