Varaico: Literature-Extracted Genetic Variants

Gene:OTX2
Variant:p.Q99*

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
8 papers
NM_172337.3
p.Q99*
c.295C>T
NM_021728.4
p.Q107*
c.319C>T
Surrounding Variants
1 paper
NM_021728.4
p.Q106R
c.317A>G
5 papers
NM_021728.4
p.Q106delFs
c.316delG
NM_172337.3
p.Q98delFs
c.292delG
1 paper
NM_021728.4
p.Q107delFs
c.320delT
4 papers
NM_021728.4
p.Q106fs
c.316_317fs
10 papers
NM_021728.4
p.Q105*
c.313C>T
NM_172337.3
p.Q97*
c.289C>T
1 paper
NM_021728.4
p.Q109P
c.326A>C
1 paper
NM_021728.4
p.Q104R
c.311A>G
1 paper
NM_021728.4
p.Q104*
c.310C>T
1 paper
NM_021728.4
p.R102_Q103insFs
c.306_307insAG
1 paper
NM_021728.4
p.Q106_G111del6
c.316_332del18
3 papers
NM_172337.3
p.Q105*
c.313C>T
1 paper
NM_021728.4
p.K100T
c.299A>C
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