Varaico: Literature-Extracted Genetic Variants

Gene:NOBOX
Variant:p.E183*

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
2 papers
NM_001080413.3
p.E183*
c.547G>T
Surrounding Variants
1 paper
NM_001080413.3
p.G182G
c.546G>A
1 paper
NM_001080413.3
p.Q179R
c.536A>G
1 paper
NM_001080413.3
p.P178L
c.533C>T
1 paper
NM_001080413.3
p.V189L
c.565G>T
1 paper
NM_001080413.3
p.V189L
c.565G>C
1 paper
NM_001080413.3
p.S176F
c.527C>T
1 paper
NM_001080413.3
p.S176Y
c.527C>A
6 papers
NM_001080413.3
p.V189delFs
c.567delC
1 paper
NM_001080413.3
p.R171K
c.512G>A
1 paper
NM_001080413.3
p.A166_H168del3
c.496_503del9
1 paper
NM_001080413.3
p.S164F
c.491C>T
1 paper
NM_001080413.3
p.R163fs
c.487_488fs
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