Varaico: Literature-Extracted Genetic Variants

Gene:OTX2
Variant:p.P133S

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.P133S
c.397C>T
Surrounding Variants
6 papers
NM_172337.3
p.P133T
c.397C>A
5 papers
NM_172337.3
p.P134A
c.400C>G
8 papers
NM_021728.4
p.P142R
c.425C>G
NM_172337.3
p.P134R
c.401C>G
6 papers
NM_172337.3
p.P134_S135insFs
c.402_403insC
NM_021728.4
p.P134insFs
c.402dupC
1 paper
NM_021728.4
p.P142delFs
c.426delG
2 papers
NM_021728.4
p.S143fs
c.427_428fs
3 papers
NM_172337.3
p.S135_S136insFs
c.405_406insCT
1 paper
NM_172337.3
p.S135fs
c.403_404fs
1 paper
NM_172337.3
p.S135insFs
c.404_405dupCT
1 paper
NM_172337.3
p.S136fs
c.406_407fs
1 paper
NM_021728.4
p.S136fs
c.406_407fs
1 paper
NM_021728.4
p.S136R
c.408T>G
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