Varaico: Literature-Extracted Genetic Variants

Gene:NOBOX
Variant:p.D282Y

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.D282Y
c.844G>T
Surrounding Variants
1 paper
NM_001080413.3
p.R280H
c.839G>A
4 papers
NM_001080413.3
p.R276*
c.826C>T
2 papers
NM_001080413.3
p.T275S
c.823A>T
1 paper
NM_001080413.3
p.T275fs
c.823_824fs
1 paper
NM_001080413.3
p.K273*
c.817A>T
2 papers
NM_001080413.3
p.G263ins1
c.788_789insTCT
1 paper
NM_001080413.3
p.N246Y
c.736A>T
3 papers
NM_001080413.3
p.R239Q
c.716G>A
1 paper
NM_001080413.3
p.P223_P234ins4
c.667_702dup36
1 paper
NM_001080413.3
p.N231_V233del0
c.691_699del9
1 paper
NM_001080413.3
p.V233L
c.697G>T
1 paper
NM_001080413.3
p.V233L
c.697G>C
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