Varaico: Literature-Extracted Genetic Variants

Gene:OTX2
Variant:p.M2K

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.M2K
c.5T>A
Surrounding Variants
1 paper
NM_021728.4
p.M1insFs
c.3dupG
1 paper
NM_021728.4
p.M1_M2insFs
c.3_4insT
2 papers
NM_021728.4
p.M1_M2insFs
c.3_4insA
1 paper
NM_021728.4
p.M1I
c.3G>A
2 papers
NM_021728.4
p.M1T
c.2T>C
1 paper
NM_021728.4
p.Y4H
c.10T>C
1 paper
NM_021728.4
p.P8S
c.22C>T
1 paper
NM_021728.4
p.P8Q
c.23C>A
1 paper
NM_021728.4
p.P9insFs
c.26dupC
1 paper
NM_021728.4
p.A11T
c.31G>A
1 paper
NM_021728.4
p.V12_N13insFs
c.36_37insC
1 paper
NM_021728.4
p.L17P
c.50T>C
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