Varaico: Literature-Extracted Genetic Variants

Gene:OTX2
Variant:p.W152_S153delins

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
2 papers
NM_172337.3
p.W152_S153delins
c.456_457delinsAT
Surrounding Variants
3 papers
NM_172337.3
p.W152*
c.456G>A
3 papers
NM_172337.3
p.W152*
c.455G>A
1 paper
NM_172337.3
p.W152_S153delFs
c.456_457delTC
1 paper
NM_021728.4
p.S161insFs
c.483dupC
2 papers
NM_021728.4
p.P162delFs
c.485delG
2 papers
NM_172337.3
p.A155insFs
c.464_465insGC
1 paper
NM_172337.3
p.A155insFs
c.463_464dupGC
1 paper
NM_172337.3
p.A155insFs
c.464_465dupCT
1 paper
NM_172337.3
p.S156fs
c.466_467fs
1 paper
NM_021728.4
p.V157_S164del8
c.469_491del24
1 paper
NM_021728.4
p.P156insFs
c.467_468insT
1 paper
NM_021728.4
p.P156S
c.466C>T
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