Varaico: Literature-Extracted Genetic Variants

Gene:DMBX1
Variant:p.E145Q

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.E145Q
c.433G>C
Surrounding Variants
1 paper
NM_172225.2
p.A148A
c.444C>T
3 papers
NM_172225.2
p.E140Q
c.418G>C
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.K130insFs
c.388dupA
1 paper
NM_172225.2
p.R126H
c.377G>A
1 paper
NM_172225.2
p.R164R
c.492T>C
1 paper
NM_172225.2
p.K123M
c.368A>T
1 paper
NM_172225.2
p.K120N
c.360G>C
1 paper
NM_172225.2
p.K120N
c.360G>T
4 papers
NM_147192.4
p.R123W
c.367C>T
NM_172225.2
p.R118W
c.352C>T
1 paper
NM_172225.2
p.R194C
c.580C>T
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