Varaico: Literature-Extracted Genetic Variants

Gene:OTX2
Variant:p.W93C

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.W93C
c.279G>T
Surrounding Variants
1 paper
NM_021728.4
p.W93C
c.279G>C
1 paper
NM_172337.3
p.W85*
c.255G>A
1 paper
NM_021728.4
p.W93L
c.278G>T
3 papers
NM_172337.3
p.W85*
c.254G>A
NM_021728.4
p.W93*
c.278G>A
1 paper
NM_021728.4
p.W93R
c.277T>C
1 paper
NM_021728.4
p.W93R
c.277T>A
1 paper
NM_172337.3
p.V84fs
c.250_251fs
1 paper
NM_021728.4
p.Q91_V92Splc
c.274-1G>A
1 paper
NM_021728.4
p.K95insFs
c.285dupG
1 paper
NM_021728.4
p.N96K
c.288T>A
12 papers
NM_021728.4
p.R97*
c.289C>T
NM_172337.3
p.R89*
c.265C>T
6 papers
NM_172337.3
p.R89G
c.265C>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."