Varaico: Literature-Extracted Genetic Variants

Gene:AKNAD1
Variant:p.P540L

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.P540L
c.1619C>T
Surrounding Variants
1 paper
NM_152763.5
p.P553L
c.1658C>T
1 paper
NM_152763.5
p.G519D
c.1556G>A
1 paper
NM_152763.5
p.E512_I513Splc
c.1537-3C>A
1 paper
NM_152763.5
p.T555Splc
c.1664+123A>G
1 paper
NM_152763.5
p.T555Splc
c.1665-8T>C
3 papers
NM_152763.5
p.G559C
c.1675G>T
2 papers
NM_152763.5
p.G559R
c.1675G>C
1 paper
NM_152763.5
p.H560N
c.1678C>A
1 paper
NM_152763.5
p.L577M
c.1729C>A
2 papers
NM_152763.5
p.G582V
c.1745G>T
1 paper
NM_152763.5
p.S510L
c.1529C>T
1 paper
NM_152763.5
p.V497A
c.1490T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."