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.A198P

c.592G>C

Surrounding Variants

1 paper

NM_014562.4

p.S192L

c.575C>T

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.S169N

c.506G>A

1 paper

NM_014562.4

p.S230N

c.689G>A

1 paper

NM_014562.4

p.Q233R

c.698A>G

1 paper

NM_014562.4

p.G156insFs

c.467_468insT

1 paper

NM_014562.4

p.D247N

c.739G>A

1 paper

NM_014562.4

p.H260Q

c.780C>A

1 paper

NM_014562.4

p.H260Q

c.780C>G

1 paper

NM_014562.4

p.S287_S289del3

c.859_866del9

1 paper

NM_014562.4

p.S287_S289del0

c.861_866del6