Varaico: Literature-Extracted Genetic Variants

Gene:AKNAD1
Variant:p.K620R

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
2 papers
NM_152763.5
p.K620R
c.1859A>G
Surrounding Variants
9 papers
NM_152763.5
p.N616K
c.1848C>G
9 papers
NM_152763.5
p.N616K
c.1848C>A
1 paper
NM_152763.5
p.Q615_N616ins4
c.1843_1847ins12
1 paper
NM_152763.5
p.L634V
c.1900C>G
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.N646Splc
c.1936+1G>A
1 paper
NM_152763.5
p.E612V
c.1835A>T
1 paper
NM_152763.5
p.R608H
c.1823G>A
1 paper
NM_152763.5
p.P602L
c.1805C>T
1 paper
NM_152763.5
p.P600S
c.1798C>T
1 paper
NM_152763.5
p.A595V
c.1784C>T
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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."