Varaico: Literature-Extracted Genetic Variants

Gene:OTX2
Variant:p.R69W

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.R69W
c.205C>T
Surrounding Variants
1 paper
NM_021728.4
p.P71L
c.212C>T
1 paper
NM_021728.4
p.D72_I73delFs
c.214_217del4
1 paper
NM_021728.4
p.F74L
c.220T>C
2 papers
NM_172337.3
p.R68P
c.203G>C
1 paper
NM_172337.3
p.E69G
c.206A>G
2 papers
NM_021728.4
p.E78K
c.232G>A
1 paper
NM_021728.4
p.V79L
c.235G>T
9 papers
NM_021728.4
p.V79M
c.235G>A
4 papers
NM_021728.4
p.F74_V79delFs
c.221_236del16
1 paper
NM_021728.4
p.R50_Q57insFs
c.148_170dup23
1 paper
NM_021728.4
p.A80G
c.239C>G
1 paper
NM_172337.3
p.A72fs
c.214_215fs
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