Varaico: Literature-Extracted Genetic Variants

Gene:OTX2
Variant:p.Q105*

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
3 papers
NM_172337.3
p.Q105*
c.313C>T
Surrounding Variants
1 paper
NM_021728.4
p.Q106_G111del6
c.316_332del18
1 paper
NM_021728.4
p.Q109P
c.326A>C
1 paper
NM_021728.4
p.Q107delFs
c.320delT
1 paper
NM_021728.4
p.P118R
c.353C>G
1 paper
NM_021728.4
p.R117_P118del2
c.349_353del6
8 papers
NM_172337.3
p.Q99*
c.295C>T
NM_021728.4
p.Q107*
c.319C>T
1 paper
NM_021728.4
p.A119V
c.356C>T
1 paper
NM_021728.4
p.Q106R
c.317A>G
5 papers
NM_021728.4
p.Q106delFs
c.316delG
NM_172337.3
p.Q98delFs
c.292delG
1 paper
NM_021728.4
p.K120*
c.358A>T
1 paper
NM_021728.4
p.A119delFs
c.357delG
4 papers
NM_021728.4
p.Q106fs
c.316_317fs
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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."