Varaico: Literature-Extracted Genetic Variants

Gene:DMBX1

DMBX1

56 papers

RefSeq Summary

This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ d...

Pfam Domains

Homeodomainaa 72–128UCSCHomeodomain
OARaa 355–373UCSCOAR motif

Gene Aliases

HGNC Name

diencephalon/mesencephalon homeobox 1

HGNC Previous Symbol

OTX3

Papers
RefSeq ID
Protein change
DNA change
1–12 of 49 variants
3 papers
NM_172225.2
p.E140Q
c.418G>C
2 papers
NM_147192.4
p.R123W
c.367C>T
2 papers
NM_172225.2
p.R118W
c.352C>T
2 papers
NM_172225.2
p.E282K
c.844G>A
2 papers
NM_172225.2
p.P298L
c.893C>T
1 paper
NM_172225.2
p.A19V
c.56C>T
1 paper
NM_172225.2
p.A28G
c.83C>G
1 paper
NM_172225.2
p.A28A
c.84C>A
1 paper
NM_172225.2
p.Q30K
c.88C>A
1 paper
NM_172225.2
p.A31P
c.91G>C
1 paper
NM_172225.2
p.Q32_H33insFs
c.96_97insC
1 paper
NM_172225.2
p.A43V
c.128C>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."