Varaico: Literature-Extracted Genetic Variants

Gene:OTX2
Variant:p.A244_S245del2

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.A244_S245del2
c.730_734del6
Surrounding Variants
2 papers
NM_021728.4
p.S245F
c.734C>T
3 papers
NM_172337.3
p.P221_A236del16
c.661_707del48
2 papers
NM_172337.3
p.A236A
c.708T>A
1 paper
NM_021728.4
p.A244fs
c.730_731fs
3 papers
NM_021728.4
p.P243insFs
c.728dupC
1 paper
NM_172337.3
p.A226_S234del0
c.676_702del27
1 paper
NM_172337.3
p.L219_S234delFs
c.655_701del47
1 paper
NM_021728.4
p.T236_S242delFs
c.706_725del20
1 paper
NM_021728.4
p.Q249R
c.746A>G
1 paper
NM_172337.3
p.G223_Q233delFs
c.668_698del31
1 paper
NM_021728.4
p.G250R
c.748G>C
1 paper
NM_021728.4
p.G250R
c.748G>A
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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."