Varaico: Literature-Extracted Genetic Variants

Gene:AKNAD1
Variant:p.C680F

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.C680F
c.2039G>T
Surrounding Variants
1 paper
NM_152763.5
p.C680Y
c.2039G>A
4 papers
NM_152763.5
p.C654Y
c.1961G>A
1 paper
NM_152763.5
p.S647C
c.1940C>G
1 paper
NM_152763.5
p.S703I
c.2108G>T
1 paper
NM_152763.5
p.E716*
c.2146G>T
1 paper
NM_152763.5
p.N646Splc
c.1936+1G>A
1 paper
NM_152763.5
p.S641*
c.1922C>G
1 paper
NM_152763.5
p.S641*
c.1922C>A
1 paper
NM_152763.5
p.L634V
c.1900C>G
2 papers
NM_152763.5
p.K620R
c.1859A>G
9 papers
NM_152763.5
p.N616K
c.1848C>G
9 papers
NM_152763.5
p.N616K
c.1848C>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."