Varaico: Literature-Extracted Genetic Variants

Gene:OTX2

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
1–12 of 361 variants
14 papers
NM_021728.4
p.R89G
c.265A>G
11 papers
NM_021728.4
p.R97*
c.289C>T
11 papers
NM_021728.4
p.N233S
c.698A>G
9 papers
NM_021728.4
p.V79M
c.235G>A
8 papers
NM_021728.4
p.P27delFs
c.81delG
8 papers
NM_021728.4
p.Y31*
c.93C>G
8 papers
NM_021728.4
p.Y31*
c.93C>A
7 papers
NM_172337.3
p.Q99*
c.295C>T
6 papers
NM_021728.4
p.Q105*
c.313C>T
6 papers
NM_172337.3
p.Q97*
c.289C>T
6 papers
NM_021728.4
p.G134_T135insFs
c.402_403insC
6 papers
NM_021728.4
p.P142R
c.425C>G
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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."