Varaico: Literature-Extracted Genetic Variants

Gene:OTX2
Variant:p.P39fs

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.P39fs
c.115_116fs
Surrounding Variants
1 paper
NM_021728.4
p.P39_A40delFs
c.117_118delCG
1 paper
NM_021728.4
p.A41G
c.122C>G
1 paper
NM_021728.4
p.A36delFs
c.106delC
1 paper
NM_021728.4
p.G33_A41delFs
c.98_122del25
1 paper
NM_021728.4
p.A36P
c.106G>C
1 paper
NM_021728.4
p.C38_T42delFs
c.112_124del13
1 paper
NM_021728.4
p.P43A
c.127C>G
1 paper
NM_021728.4
p.P43T
c.127C>A
3 papers
NM_021728.4
p.R44fs
c.130_131fs
1 paper
NM_021728.4
p.R44W
c.130C>T
2 papers
NM_021728.4
p.P34fs
c.100_101fs
5 papers
NM_172337.3
p.R36insFs
c.106dupC
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