Varaico: Literature-Extracted Genetic Variants

Gene:OTX2
Variant:p.R181delFs

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.R181delFs
c.543delC
Surrounding Variants
2 papers
NM_021728.4
p.Q180*
c.538C>T
1 paper
NM_172337.3
p.S167_M171delins
c.500_512delinsA
2 papers
NM_172337.3
p.C170*
c.510C>A
NM_021728.4
p.C178*
c.534C>A
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
1 paper
NM_021728.4
p.M185_T186insFs
c.553_556dup4
1 paper
NM_021728.4
p.T186fs
c.556_557fs
1 paper
NM_021728.4
p.S176delFs
c.527delG
7 papers
NM_172337.3
p.Y179*
c.537T>G
NM_021728.4
p.Y187*
c.561T>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."