Varaico: Literature-Extracted Genetic Variants

Gene:NOVA2
Variant:p.L252Fs

NOVA2

214 papers

Pfam Domains

KH_1aa 34–101UCSCKH domain
KH_1aa 132–198UCSCKH domain
KH_1aa 408–475UCSCKH domain

Gene Aliases

HGNC Name

NOVA alternative splicing regulator 2

HGNC Previous Symbol

NOVA3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002516.4
p.L252Fs
c.754_756delinsTTFs
Surrounding Variants
1 paper
NM_002516.4
p.L252fs
c.754_755fs
2 papers
NM_002516.4
p.V237_S250delFs
c.709_748del40
1 paper
NM_002516.4
p.L252_P255delFs
c.755_764del10
1 paper
NM_002516.4
p.G257R
c.769G>C
1 paper
NM_002516.4
p.G257R
c.769G>A
1 paper
NM_002516.4
p.A259S
c.775G>T
1 paper
NM_002516.4
p.A246P
c.736G>C
1 paper
NM_002516.4
p.A259G
c.776C>G
1 paper
NM_002516.4
p.V261fs
c.781_782fs
2 papers
NM_002516.4
p.V261delFs
c.781delC
2 papers
NM_002516.4
p.V261delFs
c.782delA
1 paper
NM_002516.4
p.A263fs
c.787_788fs
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