Varaico: Literature-Extracted Genetic Variants

Gene:NOBOX
Variant:p.D452N

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
13 papers
NM_001080413.3
p.D452N
c.1354G>A
Surrounding Variants
1 paper
NM_001080413.3
p.R450R
c.1350G>A
1 paper
NM_001080413.3
p.P454S
c.1360C>T
7 papers
NM_001080413.3
p.R449*
c.1345C>T
1 paper
NM_001080413.3
p.S444C
c.1330A>T
1 paper
NM_001080413.3
p.P441fs
c.1321_1322fs
1 paper
NM_001080413.3
p.P441delFs
c.1322delG
1 paper
NM_001080413.3
p.P441fs
c.1321_1322fs
4 papers
NM_001080413.3
p.G433V
c.1298G>T
2 papers
NM_001080413.3
p.G474fs
c.1420_1421fs
1 paper
NM_001080413.3
p.G474fs
c.1420_1421fs
2 papers
NM_001080413.3
p.G474delFs
c.1421delC
3 papers
NM_001080413.3
p.K480N
c.1440G>T
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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."