Varaico: Literature-Extracted Genetic Variants

Gene:OTX2
Variant:p.Y267F

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.Y267F
c.800A>T
Surrounding Variants
1 paper
NM_021728.4
p.K268Q
c.802A>C
1 paper
NM_021728.4
p.C264C
c.792C>T
1 paper
NM_021728.4
p.T271fs
c.811_812fs
2 papers
NM_021728.4
p.T271delFs
c.811delT
1 paper
NM_021728.4
p.T271fs
c.811_812fs
1 paper
NM_021728.4
p.A272delFs
c.814delC
1 paper
NM_021728.4
p.T261_T262delFs
c.781_784del4
1 paper
NM_172337.3
p.A264A
c.792C>T
1 paper
NM_021728.4
p.T261fs
c.781_782fs
1 paper
NM_021728.4
p.S273delFs
c.819delG
1 paper
NM_021728.4
p.T262_S273del12
c.784_818del36
1 paper
NM_021728.4
p.W274fs
c.820_821fs
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