Varaico: Literature-Extracted Genetic Variants

Gene:OTX2
Variant:p.S254P

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.S254P
c.760T>C
Surrounding Variants
2 papers
NM_021728.4
p.S254*
c.761C>G
2 papers
NM_021728.4
p.S254*
c.761C>A
3 papers
NM_172337.3
p.A245V
c.734C>T
1 paper
NM_021728.4
p.A253T
c.757G>A
1 paper
NM_021728.4
p.L256M
c.766T>A
1 paper
NM_021728.4
p.L256F
c.768G>T
1 paper
NM_001270523.2
p.G249fs
c.745_746fs
3 papers
NM_021728.4
p.G257S
c.769G>A
1 paper
NM_021728.4
p.G257D
c.770G>A
1 paper
NM_021728.4
p.G250delFs
c.749delC
1 paper
NM_001270523.2
p.G249delFs
c.746delC
1 paper
NM_021728.4
p.G250R
c.748G>C
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