Varaico: Literature-Extracted Genetic Variants

Gene:NOVA2
Variant:p.N216N

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.N216N
c.648C>T
Surrounding Variants
1 paper
NM_002516.4
p.I212M
c.636C>G
1 paper
NM_002516.4
p.C209delFs
c.625delA
1 paper
NM_002516.4
p.C209fs
c.625_626fs
1 paper
NM_002516.4
p.G228D
c.683G>A
1 paper
NM_002516.4
p.P204H
c.611C>A
1 paper
NM_002516.4
p.P230L
c.689C>T
1 paper
NM_002516.4
p.Y231*
c.693C>G
1 paper
NM_002516.4
p.Y231*
c.693C>A
1 paper
NM_002516.4
p.V237fs
c.709_710fs
1 paper
NM_002516.4
p.L238fs
c.712_713fs
1 paper
NM_002516.4
p.V237insFs
c.710_711dupTG
2 papers
NM_002516.4
p.P234_A240insFs
c.701_720dup20
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