Varaico: Literature-Extracted Genetic Variants

Gene:NOBOX
Variant:p.K207N

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.K207N
c.621A>C
Surrounding Variants
1 paper
NM_001080413.3
p.K207N
c.621A>T
1 paper
NM_001080413.3
p.N210D
c.628A>G
1 paper
NM_001080413.3
p.L214V
c.640C>G
1 paper
NM_001080413.3
p.P216A
c.646C>G
1 paper
NM_001080413.3
p.P216R
c.647C>G
2 papers
NM_001080413.3
p.A222delFs
c.666delG
6 papers
NM_001080413.3
p.V189delFs
c.567delC
1 paper
NM_001080413.3
p.A226T
c.676G>A
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.G221_H230del0
c.661_690del30
2 papers
NM_001080413.3
p.E183*
c.547G>T
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