Varaico: Literature-Extracted Genetic Variants

Gene:OTX2
Variant:p.C170*

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.C170*
c.510C>A
NM_021728.4
p.C178*
c.534C>A
Surrounding Variants
1 paper
NM_172337.3
p.S167_M171delins
c.500_512delinsA
2 papers
NM_021728.4
p.Q180*
c.538C>T
1 paper
NM_021728.4
p.S176delFs
c.527delG
1 paper
NM_021728.4
p.S175S
c.525C>G
1 paper
NM_021728.4
p.R181delFs
c.543delC
1 paper
NM_021728.4
p.T174I
c.521C>T
1 paper
NM_021728.4
p.L172S
c.515T>C
4 papers
NM_172337.3
p.T178S
c.532A>T
2 papers
NM_021728.4
p.T186insFs
c.556_557ins4
4 papers
NM_172337.3
p.T178S
c.533C>G
1 paper
NM_021728.4
p.T186insFs
c.557_558ins4
3 papers
NM_021728.4
p.M185_T186insFs
c.555_556dupGA
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."