Varaico: Literature-Extracted Genetic Variants

Gene:OTX2
Variant:p.Q181_A182insFs

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_172337.3
p.Q181_A182insFs
c.543_544ins4
Surrounding Variants
1 paper
NM_021728.4
p.A190P
c.568G>C
1 paper
NM_021728.4
p.A190T
c.568G>A
1 paper
NM_021728.4
p.Q189R
c.566A>G
1 paper
NM_172337.3
p.Q181fs
c.541_542fs
1 paper
NM_021728.4
p.A190V
c.569C>T
1 paper
NM_021728.4
p.S191delFs
c.571delA
7 papers
NM_172337.3
p.Y179*
c.537T>G
NM_021728.4
p.Y187*
c.561T>G
7 papers
NM_172337.3
p.Y179*
c.537T>A
NM_021728.4
p.Y187*
c.561T>A
1 paper
NM_021728.4
p.G192_Y193insFs
c.576_577insCT
1 paper
NM_021728.4
p.T186fs
c.556_557fs
1 paper
NM_021728.4
p.Y193insFs
c.577_578insCT
1 paper
NM_021728.4
p.G192delFs
c.575_576delAC
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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."