Varaico: Literature-Extracted Genetic Variants

Gene:OTX2
Variant:p.V139_P140delFs

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.V139_P140delFs
c.416_420del5
Surrounding Variants
1 paper
NM_021728.4
p.P148P
c.444G>C
1 paper
NM_021728.4
p.I150V
c.448A>G
1 paper
NM_172337.3
p.V139D
c.416T>A
1 paper
NM_021728.4
p.A151S
c.451G>T
1 paper
NM_021728.4
p.T149_I150insFs
c.447_450dup4
6 papers
NM_172337.3
p.S138*
c.413C>G
6 papers
NM_172337.3
p.S138*
c.413C>A
1 paper
NM_021728.4
p.S144_T145del0
c.430_435del6
1 paper
NM_172337.3
p.S136fs
c.406_407fs
1 paper
NM_172337.3
p.S135insFs
c.404_405dupCT
3 papers
NM_172337.3
p.S135_S136insFs
c.405_406insCT
1 paper
NM_172337.3
p.S135fs
c.403_404fs
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