Varaico: Literature-Extracted Genetic Variants

Gene:NOVA1

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
1–12 of 113 variants
2 papers
NM_002515.3
p.R146C
c.436C>T
2 papers
NM_002515.3
p.V197I
c.589G>A
1 paper
NM_002515.3
p.P6P
c.18C>A
1 paper
NM_002515.3
p.H13N
c.37C>A
1 paper
NM_002515.3
p.P22insFs
c.64_65insT
1 paper
NM_002515.3
p.S25P
c.73T>C
1 paper
NM_002515.3
p.P34fs
c.100_101fs
1 paper
NM_002515.3
p.P34P
c.102T>C
1 paper
NM_002515.3
p.G37R
c.109G>C
1 paper
NM_002515.3
p.K40*
c.118A>T
1 paper
NM_002515.3
p.N43K
c.129T>G
1 paper
NM_002515.3
p.N43K
c.129T>A
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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."