Varaico: Literature-Extracted Genetic Variants

Gene:OTX2
Variant:p.Y197*

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.Y197*
c.591T>A
Surrounding Variants
1 paper
NM_021728.4
p.Y197*
c.591T>G
1 paper
NM_021728.4
p.A198fs
c.592_593fs
1 paper
NM_021728.4
p.Y197S
c.590A>C
5 papers
NM_172337.3
p.G188*
c.562G>T
1 paper
NM_021728.4
p.G199G
c.597C>G
2 papers
NM_172337.3
p.Q187*
c.559C>T
NM_021728.4
p.Q195*
c.583C>T
1 paper
NM_172337.3
p.S186fs
c.556_557fs
1 paper
NM_172337.3
p.Y185_S186insFs
c.555_556dupTA
2 papers
NM_172337.3
p.Y185_S186insFs
c.553_556dup4
1 paper
NM_172337.3
p.S186fs
c.556_557fs
2 papers
NM_172337.3
p.S186insFs
c.556_557ins4
1 paper
NM_021728.4
p.Y193*
c.579T>G
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