Varaico: Literature-Extracted Genetic Variants

Gene:OTP
Variant:p.P80A

OTP

18 papers

RefSeq Summary

This gene encodes a member of the homeodomain (HD) family. HD family proteins are helix-turn-helix transcription factors that play key roles in the specification of cell fates. This protein may functi...

Pfam Domains

Homeodomainaa 105–161UCSCHomeodomain
OARaa 302–320UCSCOAR motif

Gene Aliases

HGNC Name

orthopedia homeobox

HGNC Previous Name

orthopedia homolog (Drosophila)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032109.3
p.P80A
c.238C>G
Surrounding Variants
2 papers
NM_032109.3
p.Q83K
c.247C>A
1 paper
NM_032109.3
p.P92S
c.274C>T
2 papers
NM_032109.3
p.A95V
c.284C>T
1 paper
NM_032109.3
p.G60A
c.179G>C
1 paper
NM_032109.3
p.R108W
c.322C>T
1 paper
NM_032109.3
p.T109T
c.327G>A
1 paper
NM_032109.3
p.A26E
c.77C>A
1 paper
NM_032109.3
p.G13Splc
c.38-85C>T
1 paper
NM_032109.3
p.A10V
c.29C>T
1 paper
NM_032109.3
p.A10T
c.28G>A
1 paper
NM_032109.3
p.V150D
c.449T>A
2 papers
NM_032109.3
p.Q153R
c.458A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."