Varaico: Literature-Extracted Genetic Variants

Gene:NOBOX
Variant:p.V318E

NOBOX

153 papers

RefSeq Summary

This homeobox gene encodes a transcription factor that is thought to play a role in oogenesis. In mice, it is essential for folliculogenesis and regulation of oocyte-specific genes. Defects in this ge...

Pfam Domains

Homeodomainaa 273–318UCSCHomeodomain

Gene Aliases

HGNC Name

NOBOX oogenesis homeobox

HGNC Alias Symbols

OG2; Og2x

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001080413.3
p.V318E
c.953T>A
Surrounding Variants
1 paper
NM_001080413.3
p.K319R
c.956A>G
1 paper
NM_001080413.3
p.R315H
c.944G>A
2 papers
NM_001080413.3
p.A321A
c.963C>T
1 paper
NM_001080413.3
p.G322S
c.964G>A
1 paper
NM_001080413.3
p.A326A
c.978A>C
2 papers
NM_001080413.3
p.G331*
c.991G>T
1 paper
NM_001080413.3
p.G331R
c.991G>C
1 paper
NM_001080413.3
p.G331R
c.991G>A
1 paper
NM_001080413.3
p.E304G
c.911A>G
14 papers
NM_001080413.3
p.R303*
c.907C>T
4 papers
NM_001080413.3
p.R302C
c.904C>T
1 paper
NM_001080413.3
p.H295D
c.883C>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."