Varaico: Literature-Extracted Genetic Variants

OTX1

38 papers

RefSeq Summary

This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ d...

Pfam Domains

Homeodomainaa 39–95UCSCHomeodomain

TF_Otxaa 178–279UCSCOtx1 transcription factor

Gene Aliases

HGNC Name

orthodenticle homeobox 1

HGNC Previous Names

orthodenticle (Drosophila) homolog 1; orthodenticle homolog 1 (Drosophila)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014562.4

p.S101delFs

c.301_302delAG

Surrounding Variants

1 paper

NM_014562.4

p.Q98insFs

c.293_294insC

1 paper

NM_014562.4

p.R106C

c.316C>T

1 paper

NM_014562.4

p.Q96_Q97del1

c.287_289delAGC

1 paper

NM_014562.4

p.A91V

c.272C>T

1 paper

NM_014562.4

p.G156insFs

c.467_468insT

1 paper

NM_014562.4

p.S169N

c.506G>A

1 paper

NM_014562.4

p.S183S

c.549G>A

1 paper

NM_014562.4

p.S183S

c.549G>T

1 paper

NM_014562.4

p.S192L

c.575C>T

1 paper

NM_014562.4

p.A198P

c.592G>C

1 paper

NM_014562.4

p.S230N

c.689G>A

1 paper

NM_014562.4

p.Q233R

c.698A>G