Varaico: Literature-Extracted Genetic Variants

Gene:OTX2
Variant:p.K45insFs

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.K45insFs
c.135dupA
Surrounding Variants
1 paper
NM_021728.4
p.Q46R
c.137A>G
1 paper
NM_172337.3
p.R36fs
c.106_107fs
1 paper
NM_021728.4
p.R47H
c.140G>A
1 paper
NM_021728.4
p.R44R
c.132G>A
5 papers
NM_172337.3
p.R36insFs
c.106dupC
1 paper
NM_172337.3
p.R36P
c.107G>C
1 paper
NM_021728.4
p.R44Q
c.131G>A
4 papers
NM_021728.4
p.R44delFs
c.130delG
NM_172337.3
p.R36delFs
c.106delG
3 papers
NM_021728.4
p.R44fs
c.130_131fs
1 paper
NM_021728.4
p.R44W
c.130C>T
3 papers
NM_172337.3
p.R39_R40delFs
c.117_118delGG
1 paper
NM_172337.3
p.R40fs
c.118_119fs
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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."