Varaico: Literature-Extracted Genetic Variants

Gene:DMBX1
Variant:p.G285A

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.G285A
c.854G>C
Surrounding Variants
1 paper
NM_172225.2
p.A287T
c.859G>A
2 papers
NM_172225.2
p.E282K
c.844G>A
1 paper
NM_172225.2
p.A292V
c.875C>T
1 paper
NM_172225.2
p.A293V
c.878C>T
1 paper
NM_172225.2
p.T272N
c.815C>A
2 papers
NM_172225.2
p.P298L
c.893C>T
1 paper
NM_172225.2
p.Q264K
c.790C>A
1 paper
NM_172225.2
p.R260C
c.778C>T
1 paper
NM_172225.2
p.S314A
c.940T>G
1 paper
NM_172225.2
p.P333L
c.998C>T
1 paper
NM_172225.2
p.P336S
c.1006C>T
1 paper
NM_172225.2
p.T234I
c.701C>T
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