Varaico: Literature-Extracted Genetic Variants

Gene:OTX2
Variant:p.Q249R

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.Q249R
c.746A>G
Surrounding Variants
1 paper
NM_021728.4
p.G250R
c.748G>C
1 paper
NM_021728.4
p.G250R
c.748G>A
1 paper
NM_021728.4
p.G250fs
c.748_749fs
1 paper
NM_021728.4
p.G250delFs
c.749delC
1 paper
NM_021728.4
p.A244_S245del2
c.730_734del6
1 paper
NM_021728.4
p.A253T
c.757G>A
3 papers
NM_172337.3
p.A245V
c.734C>T
2 papers
NM_021728.4
p.S245F
c.734C>T
3 papers
NM_172337.3
p.P221_A236del16
c.661_707del48
1 paper
NM_021728.4
p.S254P
c.760T>C
2 papers
NM_172337.3
p.A236A
c.708T>A
2 papers
NM_021728.4
p.S254*
c.761C>G
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