Varaico: Literature-Extracted Genetic Variants

Gene:OTX2
Variant:p.S166_S169del0

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.S166_S169del0
c.498_506del9
Surrounding Variants
1 paper
NM_021728.4
p.S169*
c.506C>G
1 paper
NM_021728.4
p.S169*
c.506C>A
1 paper
NM_021728.4
p.L168R
c.503T>G
1 paper
NM_021728.4
p.L168insFs
c.502_503insT
1 paper
NM_021728.4
p.S166delFs
c.498delG
1 paper
NM_021728.4
p.P167L
c.500C>T
1 paper
NM_021728.4
p.L172S
c.515T>C
1 paper
NM_172337.3
p.P159T
c.475C>A
1 paper
NM_021728.4
p.T174I
c.521C>T
1 paper
NM_021728.4
p.V157_S164del8
c.469_491del24
1 paper
NM_172337.3
p.S156fs
c.466_467fs
1 paper
NM_172337.3
p.A155insFs
c.464_465dupCT
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