Varaico: Literature-Extracted Genetic Variants

Gene:OTX2
Variant:p.F53fs

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.F53fs
c.157_158fs
Surrounding Variants
3 papers
NM_172337.3
p.T46insFs
c.136dupA
1 paper
NM_172337.3
p.T46fs
c.136_137fs
1 paper
NM_021728.4
p.T52T
c.156G>A
1 paper
NM_021728.4
p.R55W
c.163C>T
1 paper
NM_021728.4
p.R55L
c.164G>T
1 paper
NM_021728.4
p.R50_T51delFs
c.150_153del4
1 paper
NM_021728.4
p.F53_R55delFs
c.157_164del8
1 paper
NM_021728.4
p.R50_Q57insFs
c.148_170dup23
1 paper
NM_172337.3
p.R40fs
c.118_119fs
3 papers
NM_172337.3
p.R39_R40delFs
c.117_118delGG
1 paper
NM_021728.4
p.R47H
c.140G>A
1 paper
NM_021728.4
p.Q46R
c.137A>G
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