Varaico: Literature-Extracted Genetic Variants

Gene:OTX2
Variant:p.D287H

OTX2

236 papers

RefSeq Summary

This gene encodes a member of the bicoid subfamily of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and plays a role in brain, craniofacial, and sens...

Pfam Domains

Homeodomainaa 39–95UCSCHomeodomain
TF_Otxaa 153–234UCSCOtx1 transcription factor

Gene Aliases

HGNC Name

orthodenticle homeobox 2

HGNC Previous Name

orthodenticle homolog 2 (Drosophila)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021728.4
p.D287H
c.859G>C
Surrounding Variants
1 paper
NM_021728.4
p.K286delFs
c.856delT
1 paper
NM_021728.4
p.Y285C
c.854A>G
1 paper
NM_021728.4
p.T289I
c.866C>T
1 paper
NM_021728.4
p.C282_D284insFs
c.844_850dup7
1 paper
NM_021728.4
p.S291*
c.872C>A
1 paper
NM_021728.4
p.D281_C282delFs
c.842_845del4
3 papers
NM_021728.4
p.C282S
c.845G>C
1 paper
NM_021728.4
p.W292insFs
c.874_875insA
1 paper
NM_021728.4
p.C282G
c.844T>G
3 papers
NM_021728.4
p.C282S
c.844T>A
1 paper
NM_021728.4
p.D281fs
c.841_842fs
1 paper
NM_021728.4
p.K293_F294insC
c.877_881ins3
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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."