Varaico: Literature-Extracted Genetic Variants

Gene:OTX2
Variant:p.R97*

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
12 papers
NM_021728.4
p.R97*
c.289C>T
NM_172337.3
p.R89*
c.265C>T
Surrounding Variants
6 papers
NM_172337.3
p.R89G
c.265C>G
1 paper
NM_021728.4
p.N96K
c.288T>A
1 paper
NM_001270524.2
p.R89P
c.266G>C
1 paper
NM_021728.4
p.K95insFs
c.285dupG
1 paper
NM_021728.4
p.R98insFs
c.293_294insC
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.V92_R98delFs
c.276_294del19
1 paper
NM_001270524.2
p.A91D
c.272C>A
1 paper
NM_021728.4
p.W93C
c.279G>T
1 paper
NM_021728.4
p.W93C
c.279G>C
1 paper
NM_172337.3
p.W85*
c.255G>A
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