Varaico: Literature-Extracted Genetic Variants

Gene:OTX2
Variant:p.P118R

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.P118R
c.353C>G
Surrounding Variants
1 paper
NM_021728.4
p.R117_P118del2
c.349_353del6
1 paper
NM_021728.4
p.A119V
c.356C>T
1 paper
NM_021728.4
p.K120*
c.358A>T
1 paper
NM_021728.4
p.A119delFs
c.357delG
2 papers
NM_021728.4
p.K121R
c.362A>G
1 paper
NM_021728.4
p.K121_K122insFs
c.363_364ins17
3 papers
NM_172337.3
p.Q105*
c.313C>T
1 paper
NM_021728.4
p.S124delFs
c.371delG
1 paper
NM_021728.4
p.Q106_G111del6
c.316_332del18
1 paper
NM_021728.4
p.S124delFs
c.371_372delAG
1 paper
NM_021728.4
p.P125fs
c.373_374fs
1 paper
NM_021728.4
p.P125delFs
c.373_374delGG
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