Varaico: Literature-Extracted Genetic Variants

Gene:OTX2
Variant:p.H230L

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_172337.3
p.H230L
c.689A>T
Surrounding Variants
1 paper
NM_172337.3
p.A226_H230del0
c.677_688del12
1 paper
NM_172337.3
p.T224_S229delFs
c.671_686del16
1 paper
NM_172337.3
p.M222_H230delFs
c.666_690del25
1 paper
NM_172337.3
p.S220_S229delFs
c.660_685del26
2 papers
NM_021728.4
p.P221_T236del16
c.661_707del48
1 paper
NM_172337.3
p.A226del1
c.676_677delTGC
1 paper
NM_172337.3
p.A226_V227delins
c.676_680delinsGG
1 paper
NM_172337.3
p.G223_A226del0
c.667_678del12
1 paper
NM_172337.3
p.G223_V227Fs
c.668_680delinsTGFs
1 paper
NM_172337.3
p.A226delFs
c.677delG
1 paper
NM_172337.3
p.N225_A226del1
c.675_677delGCA
1 paper
NM_172337.3
p.G223_Q233delFs
c.668_698del31
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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."