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

1–12 of 39 variants

2 papers

NM_014562.4

p.G19V

c.56G>T

1 paper

NM_014562.4

p.R36Q

c.107G>A

1 paper

NM_014562.4

p.Q38_R42delFs

c.112_124del13

1 paper

NM_014562.4

p.R39W

c.115C>T

1 paper

NM_014562.4

p.E41Q

c.121G>C

1 paper

NM_014562.4

p.S48S

c.144A>G

1 paper

NM_014562.4

p.Q49*

c.145C>T

1 paper

NM_014562.4

p.E54D

c.162G>C

1 paper

NM_014562.4

p.D64H

c.190G>C

1 paper

NM_014562.4

p.D64G

c.191A>G

1 paper

NM_014562.4

p.K74E

c.220A>G

1 paper

NM_014562.4

p.Q83*

c.247C>T