Varaico: Literature-Extracted Genetic Variants

Gene:NOBOX
Variant:p.C600fs

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.C600fs
c.1798_1799fs
Surrounding Variants
1 paper
NM_001080413.3
p.P599_C600delFs
c.1797_1798delAG
3 papers
NM_001080413.3
p.P599H
c.1796C>A
1 paper
NM_001080413.3
p.L601V
c.1801T>G
1 paper
NM_001080413.3
p.P599S
c.1795C>T
1 paper
NM_001080413.3
p.S597I
c.1790G>T
1 paper
NM_001080413.3
p.W596C
c.1788G>T
1 paper
NM_001080413.3
p.W596C
c.1788G>C
4 papers
NM_001080413.3
p.P609L
c.1826C>T
1 paper
NM_001080413.3
p.A614T
c.1840G>A
4 papers
NM_001080413.3
p.H617Y
c.1849C>T
11 papers
NM_001080413.3
p.P619L
c.1856C>T
1 paper
NM_001080413.3
p.G620R
c.1858G>A
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