Varaico: Literature-Extracted Genetic Variants

Gene:OTX2
Variant:p.V92_R98delFs

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.V92_R98delFs
c.276_294del19
Surrounding Variants
1 paper
NM_001270524.2
p.A91D
c.272C>A
4 papers
NM_172337.3
p.R90S
c.270A>T
4 papers
NM_172337.3
p.R90S
c.270A>C
1 paper
NM_021728.4
p.R98insFs
c.293_294insC
1 paper
NM_021728.4
p.K100T
c.299A>C
1 paper
NM_001270524.2
p.R89P
c.266G>C
12 papers
NM_021728.4
p.R97*
c.289C>T
NM_172337.3
p.R89*
c.265C>T
6 papers
NM_172337.3
p.R89G
c.265C>G
1 paper
NM_021728.4
p.N96K
c.288T>A
1 paper
NM_021728.4
p.K95insFs
c.285dupG
1 paper
NM_021728.4
p.R102_Q103insFs
c.306_307insAG
1 paper
NM_021728.4
p.Q104*
c.310C>T
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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."