Varaico: Literature-Extracted Genetic Variants

Gene:OTX2
Variant:p.G30S

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.G30S
c.88G>A
Surrounding Variants
1 paper
NM_021728.4
p.L24_G30delFs
c.70_89del20
2 papers
NM_021728.4
p.V29M
c.85G>A
1 paper
NM_021728.4
p.S28fs
c.82_83fs
8 papers
NM_021728.4
p.Y31*
c.93C>G
8 papers
NM_021728.4
p.Y31*
c.93C>A
8 papers
NM_021728.4
p.P27delFs
c.81delG
1 paper
NM_021728.4
p.P27fs
c.79_80fs
2 papers
NM_021728.4
p.L25L
c.73C>T
1 paper
NM_021728.4
p.G21fs
c.61_62fs
1 paper
NM_021728.4
p.G21S
c.61G>A
1 paper
NM_021728.4
p.T18I
c.53C>T
2 papers
NM_021728.4
p.T18N
c.53C>A
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