Varaico: Literature-Extracted Genetic Variants

Gene:OTX2
Variant:p.I150_S153del4

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.I150_S153del4
c.448_458del12
Surrounding Variants
4 papers
NM_021728.4
p.A155insFs
c.464_465insGC
2 papers
NM_021728.4
p.A155insFs
c.463_464dupGC
1 paper
NM_021728.4
p.P156S
c.466C>T
1 paper
NM_021728.4
p.P156insFs
c.467_468insT
1 paper
NM_021728.4
p.A151S
c.451G>T
1 paper
NM_021728.4
p.T149_I150insFs
c.447_450dup4
1 paper
NM_021728.4
p.I150V
c.448A>G
1 paper
NM_172337.3
p.V139_P140delFs
c.416_420del5
1 paper
NM_021728.4
p.P148P
c.444G>C
3 papers
NM_172337.3
p.W152*
c.455G>A
3 papers
NM_172337.3
p.W152*
c.456G>A
2 papers
NM_172337.3
p.W152_S153delins
c.456_457delinsAT
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