Varaico: Literature-Extracted Genetic Variants

Gene:OTX2
Variant:p.Q83insFs

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.Q83insFs
c.248dupA
Surrounding Variants
2 papers
NM_021728.4
p.Q91H
c.273G>T
NM_001270524.2
p.Q83H
c.249G>T
2 papers
NM_021728.4
p.Q91H
c.273G>C
NM_001270524.2
p.Q83H
c.249G>C
1 paper
NM_021728.4
p.Q91ins0
c.271_273dupCAG
1 paper
NM_021728.4
p.S88_Q91del0
c.262_273del12
3 papers
NM_021728.4
p.R89T
c.266G>C
14 papers
NM_021728.4
p.R89G
c.265A>G
5 papers
NM_172337.3
p.K74_E79delFs
c.221_236del16
1 paper
NM_172337.3
p.E79*
c.235G>T
6 papers
NM_172337.3
p.E79K
c.235G>A
NM_021728.4
p.E87K
c.259G>A
1 paper
NM_021728.4
p.L85L
c.255G>A
1 paper
NM_172337.3
p.N76N
c.228C>T
1 paper
NM_021728.4
p.K82delFs
c.244_245delTT
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