Varaico: Literature-Extracted Genetic Variants

Gene:DMBX1
Variant:p.E195Q

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
Selected Variant
1 paper
NM_172225.2
p.E195Q
c.583G>C
Surrounding Variants
1 paper
NM_172225.2
p.R194C
c.580C>T
1 paper
NM_172225.2
p.A200P
c.598G>C
1 paper
NM_172225.2
p.G223V
c.668G>T
1 paper
NM_172225.2
p.R164R
c.492T>C
1 paper
NM_172225.2
p.A227G
c.680C>G
1 paper
NM_172225.2
p.D154E
c.462T>A
1 paper
NM_172225.2
p.D154E
c.462T>G
1 paper
NM_172225.2
p.A148A
c.444C>T
1 paper
NM_172225.2
p.E145Q
c.433G>C
3 papers
NM_172225.2
p.E140Q
c.418G>C
1 paper
NM_172225.2
p.K130insFs
c.388dupA
1 paper
NM_172225.2
p.R126H
c.377G>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."