Varaico: Literature-Extracted Genetic Variants

Gene:OTX2
Variant:p.T135_S136insFs

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.T135_S136insFs
c.405_406insCT
Surrounding Variants
1 paper
NM_021728.4
p.S136fs
c.406_407fs
2 papers
NM_021728.4
p.G134delFs
c.402delT
2 papers
NM_021728.4
p.S136G
c.406A>G
1 paper
NM_021728.4
p.S136R
c.406A>C
1 paper
NM_021728.4
p.T135insFs
c.404_405dupCA
1 paper
NM_021728.4
p.S136fs
c.406_407fs
1 paper
NM_021728.4
p.S136R
c.408T>G
1 paper
NM_021728.4
p.S136R
c.408T>A
6 papers
NM_021728.4
p.G134_T135insFs
c.402_403insC
1 paper
NM_172337.3
p.S125fs
c.373_374fs
5 papers
NM_172337.3
p.E124delFs
c.371_372delCT
1 paper
NM_021728.4
p.E132insFs
c.395dupA
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