Varaico: Literature-Extracted Genetic Variants

Gene:NOVA1
Variant:p.S169insFs

NOVA1

64 papers

RefSeq Summary

This gene encodes a neuron-specific RNA-binding protein, a member of the Nova family of paraneoplastic disease antigens, that is recognized and inhibited by paraneoplastic antibodies. These antibodies...

Pfam Domains

KH_1aa 51–118UCSCKH domain
KH_1aa 173–239UCSCKH domain
KH_1aa 423–490UCSCKH domain

Gene Aliases

HGNC Name

NOVA alternative splicing regulator 1

HGNC Alias Symbol

NOVA-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002515.3
p.S169insFs
c.506dupC
Surrounding Variants
1 paper
NM_002515.3
p.S160F
c.479C>T
1 paper
NM_002515.3
p.S154insFs
c.460dupT
1 paper
NM_002515.3
p.Q173_V174Splc
c.519+4446C>T
2 papers
NM_002515.3
p.R146C
c.436C>T
1 paper
NM_002515.3
p.Q139*
c.415C>T
1 paper
NM_002515.3
p.R121*
c.361C>T
1 paper
NM_002515.3
p.I120delFs
c.358_359delAT
1 paper
NM_002515.3
p.F115I
c.343T>A
1 paper
NM_002515.3
p.V112delFs
c.334_335delAC
1 paper
NM_002515.3
p.V106A
c.317T>C
1 paper
NM_002515.3
p.R98Q
c.293G>A
1 paper
NM_002515.3
p.R98*
c.292C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."